Affinage

MYO5B

Unconventional myosin-Vb · UniProt Q9ULV0

Length
1848 aa
Mass
213.7 kDa
Annotated
2026-06-10
51 papers in source corpus 18 papers cited in narrative 18 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MYO5B encodes myosin Vb, an actin-based motor that drives apical membrane recycling and exocytosis in polarized epithelial cells, where its loss-of-function mutations cause microvillus inclusion disease through failure of apical and basolateral protein trafficking (PMID:18724368, PMID:20186687). MYO5B operates as an effector for the Rab8a and Rab11a GTPases through distinct tail-domain binding interfaces, with the Rab11a interaction supporting transferrin recycling and both interactions required for apical trafficking and de novo lumen formation (PMID:21282656); it is tethered to the recycling pathway within a Rab11a–Rab11-FIP2–MYO5B complex whose disruption deregulates vesicle motility (PMID:24372966). Within this framework MYO5B directs a selective apical exocytosis cascade in which Rab11–MYO5B–Slp4a–Munc18-2–Vamp7 act sequentially with Syntaxin 3 to deliver specific cargo, including NHE3, SGLT1, DRA, AQP7, and GLUT5, to the apical membrane, while CFTR and certain brush border enzymes traffic independently of MYO5B (PMID:26553929, PMID:30144427). The motor binds GTP-loaded Rab11b, which stimulates its actin-activated ATPase activity to move cargo vesicles (PMID:35563212), and its function requires the myosin co-chaperone UNC45A for stable protein expression (PMID:35421597). Beyond canonical trafficking, MYO5B controls late endosome size in a manner that governs mitotic spindle orientation (PMID:31682603), mediates endosome-to-mitochondrion iron transfer required for mitochondrial function (PMID:41908891), and shapes intestinal cell lineage through Wnt/Notch signaling balance (PMID:34197342). In hepatocytes, MYO5B motor-domain missense variants—but not knockout—drive a Rab11a-dependent toxic gain-of-function that mislocalizes the bile salt export pump BSEP, establishing this dominant mechanism as the basis of MYO5B-associated progressive familial intrahepatic cholestasis (PFIC6) (PMID:31750554, PMID:40127562).

Mechanistic history

Synthesis pass · year-by-year structured walk · 18 steps
  1. 2008 High

    Established that MYO5B is genetically required for epithelial protein trafficking, answering what gene underlies microvillus inclusion disease and what cellular process it serves.

    Evidence Homozygosity mapping and mutation identification with immunofluorescence in patient enterocytes

    PMID:18724368

    Open questions at the time
    • Did not define MYO5B molecular partners
    • Did not distinguish loss- vs gain-of-function in non-intestinal tissues
  2. 2010 High

    Confirmed MYO5B loss-of-function as the direct disease mechanism by recapitulating the MVID cellular phenotype in a defined cell model.

    Evidence siRNA knockdown with fluorescence/electron microscopy in polarized CaCo-2 cells

    PMID:20186687

    Open questions at the time
    • Did not identify the trafficking machinery MYO5B engages
  3. 2011 High

    Defined MYO5B as a dual Rab8a/Rab11a effector and mapped separable binding interfaces, explaining how one motor serves both recycling and apical morphogenesis.

    Evidence Tail-domain mutagenesis with transferrin recycling and polarized cyst assays in HeLa and MDCK cells

    PMID:21282656

    Open questions at the time
    • Did not order Rab8a/Rab11a in the pathway
    • Did not identify downstream fusion machinery
  4. 2013 Medium

    Placed Rab11a upstream of Rab8a in a MYO5B-associated exocytosis module facilitating vesicle transit through cortical actin before fusion.

    Evidence Dominant-negative/constitutively active Rab constructs and stretch-induced exocytosis imaging in bladder umbrella cells

    PMID:23389633

    Open questions at the time
    • Single cell type and single lab
    • Did not resolve fusion-machinery components
  5. 2013 Medium

    Linked MYO5B to cancer biology, showing its silencing sustains c-MET signaling and drives invasive behavior in gastric cancer cells.

    Evidence siRNA knockdown, invasion/migration assays, c-MET Western blotting, and epigenetic profiling (MSP, bisulfite sequencing, ChIP) in gastric cancer cells

    PMID:23456500

    Open questions at the time
    • Mechanism linking MYO5B trafficking to c-MET degradation not resolved
    • Single lab
  6. 2014 High

    Resolved a tripartite Rab11a–Rab11-FIP2–MYO5B tethering complex whose disruption deregulates recycling-endosome vesicle motility.

    Evidence Random mutagenesis, yeast two-hybrid, co-expression and live imaging in HeLa/MDCK cells

    PMID:24372966

    Open questions at the time
    • Did not link FIP2 mutations to disease
    • In vivo relevance not tested
  7. 2014 Medium

    Extended the MYO5B/Rab11a apical recycling pathway to hepatocytes by linking it to canalicular BSEP targeting and bile homeostasis.

    Evidence Immunohistochemistry of MVID patient liver biopsies and electron microscopy of bile canaliculi

    PMID:24375397

    Open questions at the time
    • No in vitro functional manipulation
    • Could not distinguish loss- from gain-of-function
  8. 2015 High

    Defined the ordered selective apical exocytosis cascade (Rab11–MYO5B–Slp4a–Munc18-2–Vamp7–Stx3) and showed cargo selectivity for NHE3/CFTR/GLUT5 versus pathway-independent brush border enzymes.

    Evidence CRISPR knock-in of patient MYO5B mutation, Co-IP, and cargo-specific apical trafficking assays in human epithelial cells

    PMID:26553929

    Open questions at the time
    • Cargo recognition specificity not mechanistically explained
  9. 2016 High

    Revealed developmental and regional specificity of MYO5B trafficking, showing duodenum- and neonatal-specific dependence for microvillus inclusion formation.

    Evidence Germline, conditional, and inducible MYO5B knockout mice with EM and immunofluorescence across developmental stages

    PMID:27019864

    Open questions at the time
    • Molecular basis of the neonatal-specific pathway unknown
    • Why ileum is spared not resolved
  10. 2018 High

    Established differential cargo trafficking, defining CFTR as largely MYO5B-independent and explaining the secretory-versus-malabsorptive phenotype of MVID.

    Evidence Multiple knockout mouse models, immunoelectron microscopy, enteroids, Ussing chamber electrophysiology, and patient biopsies

    PMID:30144427

    Open questions at the time
    • Why CFTR escapes MYO5B dependence is unexplained
  11. 2019 Medium

    Connected MYO5B to endosome size control and mitotic fidelity, showing giant late endosomes physically impair spindle orientation in a Rab7/chloride-channel-sensitive manner.

    Evidence MYO5B knockdown/KO with live imaging, chloride channel inhibition, and Rab7 overexpression rescue in epithelial cells

    PMID:31682603

    Open questions at the time
    • Mechanism of chloride channel redistribution unclear
    • Single lab
  12. 2020 High

    Reframed MYO5B-associated cholestasis as a Rab11a-dependent toxic gain-of-function of motor-domain mutants rather than simple loss-of-function.

    Evidence CRISPR KO versus mutant expression with Rab11a epistasis, live imaging, and mouse models

    PMID:31750554

    Open questions at the time
    • Molecular nature of the toxic species not defined
    • Why hepatocytes tolerate full KO but not mutant unclear
  13. 2021 Medium

    Showed MYO5B loss perturbs intestinal cell lineage by downregulating Wnt ligands and shifting secretory cell populations, a defect reversible by Notch inhibition.

    Evidence Inducible MYO5B KO mice, RNA-seq, organoids, and pharmacological Notch inhibition (DBZ)

    PMID:34197342

    Open questions at the time
    • Link between trafficking defect and Wnt transcription not established
    • Single lab
  14. 2022 Medium

    Identified UNC45A as a co-chaperone required for MYO5B protein stability and recycling-endosome positioning, placing MYO5B downstream of chaperone control.

    Evidence CRISPR KO of UNC45A with rescue, microscopy in intestinal and hepatic cells

    PMID:35421597

    Open questions at the time
    • Direct physical interaction not biochemically resolved
    • Single lab
  15. 2022 Medium

    Demonstrated GTP-bound Rab11b directly binds and activates MYO5B ATPase activity to drive fibronectin-vesicle secretion, extending Rab effector control to Rab11b.

    Evidence Co-IP, in vitro actin-activated ATPase assay with GTP/GDP-Rab11b, siRNA, live imaging, and FN1 ELISA in pleural mesothelial cells

    PMID:35563212

    Open questions at the time
    • Single lab
    • Physiological role of Rab11b regulation in epithelia not tested
  16. 2025 Medium

    Distinguished MYO5B from MYO1B in mucin handling, showing MYO5B specifically governs MUC17 levels at the brush border without altering total protein.

    Evidence siRNA knockdown of MYO5B and MYO1B with confocal microscopy, immunoblotting, and brush border fractionation in enterocytes

    PMID:39661054

    Open questions at the time
    • Mechanism of brush-border MUC17 retention unresolved
    • Single lab
  17. 2025 Medium

    Confirmed in vivo that a MYO5B missense variant, but not liver-specific knockout, causes cholestasis with BSEP mislocalization, cementing the toxic gain-of-function model for PFIC.

    Evidence Liver-specific Myo5b cKO and adenoviral missense-variant expression in mice with serum biochemistry and BSEP immunofluorescence

    PMID:40127562

    Open questions at the time
    • Molecular identity of the toxic interaction not defined
    • Single lab
  18. 2026 Medium

    Revealed a non-canonical role for MYO5B in endosome-to-mitochondrion iron transfer, linking its loss to mitochondrial dysfunction and oxidative stress.

    Evidence CRISPR KO in Caco2 cells with mutagenesis rescue, mitochondrial iron/membrane potential indicators, respirometry, and 3D microscopy

    PMID:41908891

    Open questions at the time
    • Mechanism of endosome-mitochondrion contact and iron handoff unresolved
    • Single lab and novel pathway claim

Open questions

Synthesis pass · forward-looking unresolved questions
  • How MYO5B achieves cargo-selective recognition—delivering specific apical transporters while excluding CFTR and certain enzymes—and the molecular basis of its toxic gain-of-function in cholestasis remain unresolved.
  • No structural model of MYO5B cargo selectivity
  • Toxic species in PFIC not molecularly defined
  • Mechanism coupling trafficking to Wnt and iron-transfer phenotypes unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003774 cytoskeletal motor activity 3 GO:0008092 cytoskeletal protein binding 3 GO:0098772 molecular function regulator activity 2 GO:0140657 ATP-dependent activity 1
Localization
GO:0005768 endosome 3 GO:0005856 cytoskeleton 2 GO:0005886 plasma membrane 2 GO:0031410 cytoplasmic vesicle 2
Pathway
R-HSA-5653656 Vesicle-mediated transport 3 R-HSA-9609507 Protein localization 2 R-HSA-1266738 Developmental Biology 1 R-HSA-382551 Transport of small molecules 1
Partners
RAB11ARAB11BRAB11FIP2RAB8ASTX3STXBP2UNC45AVAMP7
Complex memberships
Rab11-MYO5B-Slp4a-Munc18-2-Vamp7-Syntaxin 3 exocytic cascadeRab11a-Rab11-FIP2-MYO5B complex

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2008 Loss-of-function mutations in MYO5B (encoding myosin Vb motor protein) cause microvillus inclusion disease, characterized by lack of apical microvilli on enterocytes, formation of intracellular microvillus-containing vacuoles, and mislocalization of transferrin receptor, establishing MYO5B as required for apical and basolateral protein trafficking in epithelial cells. Homozygosity mapping, identification of nonsense/missense mutations, immunofluorescence microscopy in patient enterocytes Nature genetics High 18724368
2010 siRNA knockdown of MYO5B in polarized CaCo-2 cells recapitulates MVID cellular phenotype: loss of surface microvilli, increased microvillus inclusion formation, and subapical enrichment of PAS-positive endomembrane compartments, confirming MYO5B loss-of-function as the disease mechanism. siRNA knockdown, fluorescence microscopy, Western blotting, electron microscopy in polarized CaCo-2 cells Human mutation High 20186687
2011 MYO5B functions as an effector for Rab8a and Rab11a GTPases, with distinct binding interfaces: mutations Q1300L and Y1307C abolish Rab8a association, while Y1714E and Q1748R uncouple Rab11a association. Rab11a-MYO5B interaction is required for transferrin recycling in non-polarized cells, while both Rab8a and Rab11a associations are required for apical membrane trafficking and de novo lumen formation in polarized epithelial cysts. Site-directed mutagenesis of MYO5B tail domain, expression of mutant tails in HeLa and MDCK cells, transferrin recycling assay, polarized cyst culture, immunofluorescence Proceedings of the National Academy of Sciences of the United States of America High 21282656
2013 Myo5B works in association with a Rab11a-Rab8a module to promote regulated exocytosis in bladder umbrella cells, facilitating transit of discoidal/fusiform vesicles through a subapical cortical actin cytoskeleton before membrane fusion. Rab11a acts upstream of Rab8a in this pathway. Expression of dominant-negative/constitutively active Rab constructs, live cell imaging, stretch-induced exocytosis assay in bladder umbrella cells Molecular biology of the cell Medium 23389633
2014 A tripartite complex of Rab11a, Rab11-FIP2, and MYO5B regulates recycling endosome trafficking. Point mutations S229P or G233E in Rab11-FIP2 disrupt interaction with MYO5B, and perturbation of this interaction increases vesicle speed and track length in live cells, consistent with impaired MYO5B tethering to the cytoskeleton. Random mutagenesis, yeast two-hybrid assay, co-expression in HeLa/MDCK cells, live cell imaging of Rab11a vesicle movement, Rab11-FIP2 knockdown Traffic (Copenhagen, Denmark) High 24372966
2014 MYO5B deficiency in hepatocytes causes abnormal cytoplasmic distribution of RAB11A and BSEP (bile salt export pump), implicating the MYO5B/RAB11A apical recycling endosome pathway in targeting BSEP to the canalicular membrane in hepatocytes and thereby in bile homeostasis. Immunohistochemistry of liver biopsies from MVID patients, electron microscopy of bile canaliculi Hepatology (Baltimore, Md.) Medium 24375397
2015 Myo5B participates in a selective apical exocytosis cascade in polarized epithelial cells: apical delivery of NHE3, CFTR, and GLUT5 requires sequential interaction of Rab11-Myo5B-Slp4a-Munc18-2-Vamp7 with Syntaxin 3. Brush border enzymes DPPIV and sucrase-isomaltase traffic to the apical membrane independently of this pathway. CRISPR genome editing to introduce patient MYO5B mutation in human epithelial cell line, immunofluorescence, co-immunoprecipitation, cargo-specific apical trafficking assays The Journal of cell biology High 26553929
2016 Germline and intestine-specific MYO5B knockout mice develop diarrhea with loss of apical transporters (NHE3, brush border enzymes) and microvillus inclusions predominantly in the duodenum but not ileum, revealing a neonatal duodenum-specific apical trafficking pathway dependent on MYO5B. Inclusions require a neonatal-specific pathway as adult tamoxifen-induced KO produces diarrhea without inclusions. Germline KO, VillinCre conditional KO, tamoxifen-inducible VillinCreERT2 KO mice; electron microscopy, immunofluorescence, phenotypic analysis at different developmental stages Cellular and molecular gastroenterology and hepatology High 27019864
2018 Loss of MYO5B causes selective mislocalization of apical transporters: NHE3, SGLT1, AQP7, and DRA are lost from the apical membrane (causing malabsorption), while CFTR remains at the apical membrane and shows increased activity (driving chloride secretion). This differential trafficking establishes that CFTR trafficking is largely MYO5B-independent. MYO5B KO mice and tamoxifen-inducible intestine-specific KO, immunostaining, immunoelectron microscopy, enteroids, Ussing chamber electrophysiology, patient duodenal biopsies Gastroenterology High 30144427
2019 Loss of MYO5B causes giant late endosome formation via a chloride channel-sensitive mechanism (involving redistribution of chloride channels from cell periphery to late endosomes), which physically hinders mitotic spindle orientation. MYO5B loss also delays cytokinesis independently of endosome size. Rab7 availability is a limiting factor for giant late endosome formation; increasing Rab7 corrects spindle misorientation and cell delamination. MYO5B knockdown/KO in epithelial cells, live fluorescence microscopy, Rab7 overexpression rescue, chloride channel inhibitor treatment, quantitative spindle orientation analysis PLoS biology Medium 31682603
2020 MYO5B motor domain-deficient mutants (but not full knockout) inhibit formation of specialized apical recycling endosomes and cause mislocalization of canalicular proteins (including BSEP) in hepatocytes by a dominant mechanism dependent on interaction with active Rab11a at the trans-Golgi Network/recycling endosome interface. MYO5B knockout alone does not produce canalicular localization defects in vitro or in vivo. This reveals a rab11a-mediated gain-of-toxic-function rather than loss-of-function as the mechanism for PFIC6. MYO5B KO (CRISPR) and mutant expression in vitro and in vivo, Rab11a mutant co-expression, immunofluorescence, live imaging of recycling endosomes, mouse models Hepatology (Baltimore, Md.) High 31750554
2013 MYO5B silencing by siRNA in gastric cancer cells promotes proliferation, invasion, and migration, and inhibits HGF-stimulated c-MET degradation, resulting in sustained c-MET levels and signaling. MYO5B promoter is epigenetically silenced in gastric cancer by aberrant DNA methylation and histone modification. siRNA knockdown, invasion/migration assays, Western blotting for c-MET, methylation-specific PCR, bisulfite sequencing, ChIP assay, 5-aza-dC/TSA treatment Digestive diseases and sciences Medium 23456500
2022 UNC45A (a myosin co-chaperone) is required for myosin Vb protein expression; UNC45A depletion reduces MYO5B protein levels and disrupts RAB11A-positive recycling endosome positioning and microvilli development in intestinal and hepatic cells. Reintroduction of UNC45A or MYO5B rescues these defects. CRISPR-Cas9 KO of UNC45A, site-directed mutagenesis of UNC45A patient variant, Western blotting, confocal fluorescence and scanning electron microscopy, rescue experiments Cellular and molecular gastroenterology and hepatology Medium 35421597
2022 MYO5B directly binds GTP-bound Rab11b (but not GDP-bound Rab11b), and Rab11b-GTP activates the actin-activated ATPase activity of Myo5B. Myo5B and Rab11b co-localize on FN1-containing vesicles and move together in live cell imaging; siRNA knockdown of Myo5B or Rab11b reduces fibronectin secretion from pleural mesothelial cells without changing FN1 expression. Co-immunoprecipitation, in vitro ATPase activity assay, siRNA knockdown, live cell imaging, ELISA for FN1 secretion International journal of molecular sciences Medium 35563212
2021 MYO5B loss in intestinal epithelial cells causes imbalance in Wnt/Notch signaling: Wnt ligand transcripts are significantly downregulated while Notch signaling molecules are unchanged, leading to reduced tuft cell populations and increased Paneth cells. Notch inhibition with dibenzazepine (DBZ) restores secretory cell populations in MYO5B-deficient intestine. Tamoxifen-inducible MYO5B KO mice, digital image analysis, RNA sequencing, organoid culture, pharmacological Notch inhibition with DBZ, LPA treatment JCI insight Medium 34197342
2025 MYO5B specifically governs MUC17 mucin levels at the brush border of enterocytes; MYO5B loss reduces MUC17 at the brush border without affecting overall MUC17 protein levels, distinguishing MYO5B's role from MYO1B which regulates total MUC17 protein levels. siRNA knockdown of MYO5B and MYO1B in enterocytes, confocal fluorescence microscopy, immunoblotting, brush border fractionation The Biochemical journal Medium 39661054
2025 Expression of the MYO5B-p.(Arg824Cys) missense variant (but not liver-specific Myo5b knockout) in mice causes cholestasis with elevated serum liver enzymes and altered BSEP localization, establishing a toxic gain-of-function mechanism for MYO5B-associated PFIC rather than loss-of-function. CRISPR/Cas9 liver-specific Myo5b cKO mouse, adenoviral delivery of MYO5B missense variant to mice, serum biochemistry, liver histology, immunofluorescence for BSEP Biochemical and biophysical research communications Medium 40127562
2026 MYO5B deficiency impairs endosome-to-mitochondrion iron transfer: MYO5B-positive endosomes carrying transferrin show close physical associations with mitochondria, and MYO5B KO reduces mitochondrial iron content while causing endosomal iron accumulation, leading to mitochondrial dysfunction including fragmentation, reduced membrane potential, defective aerobic respiration, and increased oxidative stress. Introduction of full-length MYO5B restores mitochondrial membrane potential, while MVID-causing variants do not. CRISPR-Cas9 MYO5B KO in Caco2 cells, site-directed mutagenesis, fluorescence-based mitochondrial membrane potential and iron indicators, high-resolution respirometry, quantitative 3D fluorescence microscopy, carbonylated protein analysis from isolated mitochondria, rescue with full-length vs. mutant MYO5B Gastroenterology report Medium 41908891

Source papers

Stage 0 corpus · 51 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2008 MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nature genetics 292 18724368
2011 Rab GTPase-Myo5B complexes control membrane recycling and epithelial polarization. Proceedings of the National Academy of Sciences of the United States of America 170 21282656
2016 MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease. Hepatology (Baltimore, Md.) 111 27532546
2010 Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Human mutation 104 20186687
2014 MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease. Hepatology (Baltimore, Md.) 89 24375397
2015 Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3. The Journal of cell biology 83 26553929
2008 Navajo microvillous inclusion disease is due to a mutation in MYO5B. American journal of medical genetics. Part A 78 19006234
2016 Loss of MYO5B in mice recapitulates Microvillus Inclusion Disease and reveals an apical trafficking pathway distinct to neonatal duodenum. Cellular and molecular gastroenterology and hepatology 68 27019864
2018 Loss of MYO5B Leads to Reductions in Na+ Absorption With Maintenance of CFTR-Dependent Cl- Secretion in Enterocytes. Gastroenterology 57 30144427
2014 Rab11-FIP2 interaction with MYO5B regulates movement of Rab11a-containing recycling vesicles. Traffic (Copenhagen, Denmark) 57 24372966
2013 An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations. Human mutation 57 24014347
2013 A Rab11a-Rab8a-Myo5B network promotes stretch-regulated exocytosis in bladder umbrella cells. Molecular biology of the cell 53 23389633
2018 MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update. Human mutation 51 29266534
2021 Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations. Journal of clinical medicine 43 33525641
2020 A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations. Hepatology (Baltimore, Md.) 43 31750554
2020 Lysophosphatidic Acid Increases Maturation of Brush Borders and SGLT1 Activity in MYO5B-deficient Mice, a Model of Microvillus Inclusion Disease. Gastroenterology 37 32534933
2012 MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. Journal of pediatric gastroenterology and nutrition 37 22441677
2011 Inactivation of MYO5B promotes invasion and motility in gastric cancer cells. Digestive diseases and sciences 33 22134786
2013 MYO5B is epigenetically silenced and associated with MET signaling in human gastric cancer. Digestive diseases and sciences 24 23456500
2021 Cell differentiation is disrupted by MYO5B loss through Wnt/Notch imbalance. JCI insight 23 34197342
2020 MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression. PLoS genetics 22 32511227
2022 A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy. Cellular and molecular gastroenterology and hepatology 16 35421597
2019 Loss of MYO5B expression deregulates late endosome size which hinders mitotic spindle orientation. PLoS biology 13 31682603
2022 Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level. Cellular and molecular gastroenterology and hepatology 12 35660026
2021 Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations. Journal of clinical medicine 11 33924896
2022 Myo5b Transports Fibronectin-Containing Vesicles and Facilitates FN1 Secretion from Human Pleural Mesothelial Cells. International journal of molecular sciences 8 35563212
2025 MYO5B and the Polygenic Landscape of Very Early-Onset Inflammatory Bowel Disease in an Ethnically Diverse Population. Inflammatory bowel diseases 7 39096520
2022 MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype. Journal of pediatric gastroenterology and nutrition 7 35129155
2018 Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene. Clinical case reports 6 30564347
2017 [Clinical features and MYO5B mutations of a family affected by microvillus inclusion disease]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 6 28899465
2024 Alterations in cellular metabolic pathway and epithelial cell maturation induced by MYO5B defects are partially reversible by LPAR5 activation. American journal of physiology. Gastrointestinal and liver physiology 5 39404772
2025 iPSC-based hepatic organoids reveal a heterozygous MYO5B variant as driver of intrahepatic cholestasis. Hepatology communications 4 41021273
2023 Microvillus Inclusion Disease Caused by MYO5B: Different Presentation and Phenotypes Despite Same Mutation. JPGN reports 4 37200712
2021 Compound Heterozygous Myosin 5B (Myo5b) Mutation with Early Onset Progressive Cholestasis and No Intestinal Failure. Fetal and pediatric pathology 4 34338607
2025 A liver-specific mouse model for MYO5B-associated cholestasis reveals a toxic gain-of-function as underlying disease mechanism. Biochemical and biophysical research communications 3 40127562
2022 Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea. Frontiers in genetics 3 35706451
2024 MYO5B gene mutations may promote the occurrence of very early onset inflammatory bowel disease: a case report. BMC medical genomics 2 39014344
2024 An Adult Case of Benign Recurrent Intrahepatic Cholestasis Due to MYO5B Deficiency. The Tokai journal of experimental and clinical medicine 2 39182182
2023 The MYO1B and MYO5B motor proteins and the SNX27 sorting nexin regulate membrane mucin MUC17 trafficking in enterocytes. bioRxiv : the preprint server for biology 2 36945389
2021 A Novel Homozygous Mutation in the MYO5B Gene Associated With Normal-Gamma-Glutamyl Transferase Progressive Familial Intrahepatic Cholestasis. Cureus 2 34900494
2025 The MYO1B and MYO5B motor proteins and the sorting nexin SNX27 regulate apical targeting of membrane mucin MUC17 in enterocytes. The Biochemical journal 1 39661054
2026 MYO5B Deficiency-Associated Cholestasis and the Role of the Bile Salt Export Pump. Cells 0 41511375
2026 Inhibition of Breast Cancer Bone Metastasis by LRP5-Overexpressing Osteocytes via the LIMA1/MYO5B Signaling Axis. International journal of molecular sciences 0 41596426
2026 Microvillus inclusion disease-associated MYO5B deficiency impairs endosome-to-mitochondrion iron transfer. Gastroenterology report 0 41908891
2025 Case Report: A rare case of familial progressive cholestasis type 10 in an adult with heterozygous MYO5B variant. Frontiers in gastroenterology (Lausanne, Switzerland) 0 41822262
2024 [Analysis of a child with Microvillus inclusion disease due to variants of MYO5B gene and a literature review]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 38448026
2024 Myo5B plays a significant role in the hyphal growth and virulence of the human pathogenic fungus Mucor lusitanicus. Microbiology (Reading, England) 0 39073411
2024 Altered cellular metabolic pathway and epithelial cell maturation induced by MYO5B defects are partially reversible by LPAR5 activation. bioRxiv : the preprint server for biology 0 39282272
2023 Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis. Human mutation 0 40225142
2022 Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry. Cold Spring Harbor molecular case studies 0 34815247
2022 Compound Heterozygous MYO5B Mutation, a Cause of Infantile Cholestasis: A Case Report. JNMA; journal of the Nepal Medical Association 0 36705120

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