Affinage

TMEM67

Meckelin · UniProt Q5HYA8

Length
995 aa
Mass
111.7 kDa
Annotated
2026-06-10
42 papers in source corpus 17 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

TMEM67 (meckelin) is a seven-transmembrane receptor protein that functions at the ciliary transition zone to control ciliogenesis and to transduce non-canonical Wnt signaling, with biallelic mutations causing Meckel-Gruber syndrome (MKS3) (PMID:16415887). Loss of TMEM67 disrupts centrosome number, cilia number and length, and produces functional cilia defects across tissues; the underlying defect is impaired ciliary cargo loading rather than failure of basal-body docking or planar cell polarity (PMID:19515853, PMID:23393159). At the transition zone, TMEM67 acts as a gate selectively controlling entry of membrane-associated proteins ARL13B and INPP5E into the cilium while leaving recruitment of core transition-zone proteins intact, and it restrains cilium elongation (PMID:36334440). A defining feature of TMEM67 is that its extracellular domain is cleaved by the metalloproteinase ADAMTS9, uncoupling its two activities: the C-terminal cleavage product localizes to the transition zone and drives ciliogenesis, whereas the full-length non-cleaved form transduces non-canonical Wnt signaling (PMID:40436881). In that signaling axis, the TMEM67 N-terminal domain binds Wnt5a and the protein interacts with the co-receptor ROR2 at the transition zone, where it is required for Wnt5a-stimulated ROR2 phosphorylation and downstream RhoA-dependent branching morphogenesis (PMID:26035863). Conversely, loss of TMEM67 derepresses canonical Wnt/β-catenin signaling in a HOXB5-dependent manner (PMID:30931988) and hyperactivates mTOR signaling, the inhibition of which rescues ciliary and cystic phenotypes (PMID:33574160). TMEM67 protein abundance and transition-zone localization are controlled post-translationally: FUT8-mediated core fucosylation stabilizes TMEM67 by blocking autophagic degradation (PMID:40728580). Separately, an ER-localized pool of meckelin participates in ERAD of misfolded surfactant protein C through its lumenal domain binding mutant SP-C and its transmembrane/cytosolic domains recruiting the AAA-ATPase p97 (PMID:19815549).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2006 High

    Established the gene's existence and disease relevance: identifying TMEM67 as the MKS3 gene defined meckelin as a seven-transmembrane receptor whose mutation causes Meckel-Gruber syndrome.

    Evidence Positional cloning and mutation analysis in Meckel-Gruber syndrome families

    PMID:16415887

    Open questions at the time
    • Molecular function and subcellular site of action not defined at this stage
    • No ligand or interaction partner identified
  2. 2009 High

    Placed TMEM67 in ciliary biology by showing loss-of-function disrupts centrosome and cilia number/length and impairs specialized cilia, answering whether the disease gene acts on cilia.

    Evidence wpk rat model, patient kidney tissue, and shRNA knockdown in IMCD3 cells with IF and EM

    PMID:19515853

    Open questions at the time
    • Did not resolve the molecular step in ciliogenesis that TMEM67 controls
    • Subciliary localization not established
  3. 2009 High

    Revealed a distinct ER pool of meckelin functioning in ERAD, showing the protein has activities beyond the cilium by bridging misfolded SP-C to the p97 degradation machinery.

    Evidence Reciprocal Co-IP with domain-deletion mapping, siRNA knockdown, and subcellular fractionation

    PMID:19815549

    Open questions at the time
    • Relationship between ER/ERAD role and ciliary role unresolved
    • Generality beyond SP-C substrate untested
  4. 2010 High

    Defined TMEM67's pathway position genetically, establishing it as part of an MKS module that synergizes with the NPHP module for ciliogenesis and localizes to the cilium base.

    Evidence GFP localization and genetic epistasis (double/triple mutants) in C. elegans sensory neurons

    PMID:20150540

    Open questions at the time
    • Mammalian counterpart of the genetic interactions not directly demonstrated
    • Molecular nature of MKS-NPHP synergy unknown
  5. 2013 Medium

    Distinguished the cellular lesion as defective ciliary cargo loading rather than loss of ciliogenesis or PCP, and linked TMEM67 loss to elevated canonical Wnt signaling.

    Evidence Tmem67-null mouse and zebrafish morphants with PCP markers, Wnt reporters, and ciliary loading assays

    PMID:23393159

    Open questions at the time
    • Identity of mis-loaded cargo not pinpointed
    • Mechanism connecting TMEM67 loss to canonical Wnt upregulation unresolved
  6. 2013 Medium

    Connected TMEM67 to ERK/JNK and 4E-BP1 signaling, hinting at downstream kinase pathways affected in disease tissue.

    Evidence Overexpression in HEK293 cells with pharmacological inhibitors and phospho-Western blotting, plus bpck mouse kidney

    PMID:23456819

    Open questions at the time
    • Relies on overexpression rather than loss-of-function with rescue
    • Directness of TMEM67 effect on these kinases unestablished
  7. 2015 High

    Identified TMEM67 as a non-canonical Wnt receptor: it binds Wnt5a via its N-terminal domain and partners with ROR2 to enable Wnt5a-stimulated ROR2 phosphorylation and RhoA-dependent morphogenesis.

    Evidence Co-IP with ROR2, in vitro Wnt5a binding assay, ROR2 phosphorylation assay, and RhoA rescue of mutant mouse lung

    PMID:26035863

    Open questions at the time
    • Single-lab mechanistic chain
    • How receptor signaling integrates with the ciliary gating role not addressed
  8. 2017 Medium

    Functionally validated patient mutations and showed TMEM67 selectively supports Wnt (not Hedgehog) signaling, with a truncating mutation destabilizing the protein.

    Evidence Zebrafish morpholino with wild-type vs mutant mRNA rescue and protein-stability Western blots

    PMID:28860541

    Open questions at the time
    • Morpholino-based knockdown specificity limitations
    • Mechanism of accelerated turnover not defined
  9. 2019 Medium

    Defined the mechanism by which TMEM67 loss elevates canonical Wnt: derepressed HOXB5 occupies the β-catenin promoter and is required for the elevated signaling.

    Evidence Tmem67-knockout mouse cerebellum with transcriptome profiling and HOXB5 ChIP at the β-catenin promoter

    PMID:30931988

    Open questions at the time
    • How TMEM67 normally restrains HOXB5 is unknown
    • Tissue generality beyond cerebellum untested
  10. 2019 Medium

    Linked TMEM67 to epithelial fluid/electrolyte homeostasis, showing dose-dependent hydrocephalus with altered CSF ion content but preserved AQP1/claudin-1 polarity.

    Evidence Wpk rat genotypes with CSF ion analysis, IF for tight-junction/water channels, and volumetric imaging

    PMID:30705305

    Open questions at the time
    • Molecular transport defect causing CSF ion changes unidentified
    • Causal link to ciliary defect not established
  11. 2021 Medium

    Placed mTOR hyperactivation downstream of TMEM67 loss and identified it as a therapeutically tractable driver of cystogenesis.

    Evidence TALEN tmem67 zebrafish mutants with rapamycin and hypomorphic mtor genetic rescue plus cilia quantification

    PMID:33574160

    Open questions at the time
    • Direct biochemical link between TMEM67 and mTOR not defined
    • Relationship to Wnt-axis dysregulation unclear
  12. 2021 Medium

    Localized TMEM67 to the photoreceptor outer segment plasma membrane, refining the membrane compartment in which it resides in a specialized cilium.

    Evidence Label-free quantitative MS protein correlation profiling of fractionated outer-segment membranes

    PMID:33933680

    Open questions at the time
    • Functional role at the OS plasma membrane not tested
    • Single proteomic study
  13. 2022 Medium

    Resolved the ciliary gating function: TMEM67 is required for entry of ARL13B and INPP5E into cilia and restrains cilium length while leaving core TZ assembly intact.

    Evidence CRISPR TMEM67 knockout in RPE1 cells with IF for TZ/ciliary proteins and patient-variant expression

    PMID:36334440

    Open questions at the time
    • Mechanism of selective cargo gating not defined
    • Single-lab knockout system
  14. 2022 Low

    Showed mild-cholestasis variants reduce TMEM67 protein levels without disrupting the MKS1 interaction, indicating destabilization rather than complex disassembly.

    Evidence Western blotting for protein levels and Co-IP of TMEM67 with MKS1

    PMID:35621037

    Open questions at the time
    • Single Co-IP without reciprocal validation for the MKS1 interaction
    • Causal link between reduced stability and cholestasis not established
  15. 2025 High

    Established the central regulatory logic: ADAMTS9 cleavage of the extracellular domain uncouples TMEM67's ciliary and Wnt functions into a C-terminal ciliogenic fragment and a full-length Wnt-signaling form.

    Evidence ADAMTS9 cleavage-motif mapping, in vitro cleavage assays, a non-cleavable knock-in mouse, C. elegans patient-variant studies, and Wnt assays

    PMID:40436881

    Open questions at the time
    • Spatial/temporal regulation of ADAMTS9-mediated cleavage in vivo not fully defined
    • How the C-terminal fragment is retained at the TZ unresolved
  16. 2025 High

    Identified a post-translational stabilization mechanism: FUT8-mediated core fucosylation protects TMEM67 from autophagic degradation, ensuring its transition-zone localization and ciliogenesis.

    Evidence MS proteomics, FUT8-TMEM67 Co-IP, autophagy inhibition assays, and Fut8-deficient mice with ciliary defects

    PMID:40728580

    Open questions at the time
    • Whether fucosylation also modulates the Wnt-signaling form is untested
    • Glycosylation site(s) on TMEM67 not enumerated

Open questions

Synthesis pass · forward-looking unresolved questions
  • How TMEM67's transition-zone gating activity, its ADAMTS9-cleavage-regulated dual functions, and its downstream control of canonical Wnt/HOXB5 and mTOR signaling are mechanistically integrated into a single coherent pathway remains unresolved.
  • No structural model of the TMEM67 receptor or its cleavage
  • Direct biochemical link from TMEM67 to mTOR and to canonical Wnt repression not established
  • Mechanism of selective ARL13B/INPP5E gating unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 2 GO:0048018 receptor ligand activity 1 GO:0060089 molecular transducer activity 1
Localization
GO:0005929 cilium 3 GO:0005783 endoplasmic reticulum 1 GO:0005886 plasma membrane 1
Pathway
R-HSA-162582 Signal Transduction 3 R-HSA-1852241 Organelle biogenesis and maintenance 3 R-HSA-392499 Metabolism of proteins 2
Partners
ADAMTS9FUT8MKS1P97ROR2WNT5A

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2006 TMEM67 encodes meckelin, a 995-amino acid seven-transmembrane receptor protein. Positional cloning identified pathogenic mutations in TMEM67 in Meckel-Gruber syndrome families, establishing it as the MKS3 gene product. Positional cloning, mutation analysis, sequence conservation analysis Nature genetics High 16415887
2009 MKS3 (TMEM67) and MKS1 are required for ciliary structure and function; loss-of-function leads to defects in centrosome number, cilia number and length, including multi-ciliated phenotypes, centrosome over-duplication, and functional defects of the connecting cilium in the eye (lack of outer segment formation) and very short sperm flagella in the wpk rat model. Analysis of wpk rat model (in vivo), patient kidney tissue analysis, stable shRNA knockdown of Mks3 in IMCD3 cells (in vitro), immunofluorescence, electron microscopy Human molecular genetics High 19515853
2010 In C. elegans, MKS-3 localizes to the distal end of dendrites and the cilium base (not the cilium itself) of ciliated sensory neurons. Genetic analysis shows mks-3 functions in a pathway with other mks genes, and mks-1/mks-3 genetically interact with a separate nphp-1/nphp-4 pathway to influence cilia positioning, orientation, and formation. Combined disruption has cell non-autonomous effects on sensilla. GFP localization in C. elegans, genetic epistasis analysis (double and triple mutants), chemoreception assays Journal of the American Society of Nephrology : JASN High 20150540
2009 MKS3/TMEM67 (meckelin) functions in endoplasmic reticulum-associated degradation (ERAD) of misfolded surfactant protein C (SP-C). MKS3 is a membrane glycoprotein predominantly localized to the ER; its ER lumenal domain interacts with mutant SP-C and associated chaperones, while its transmembrane/cytosolic domains interact with the AAA-ATPase p97. Knockdown of MKS3 inhibited degradation of mutant SP-C, and deletion of the TM/cytosolic domains abrogated p97 interaction and caused accumulation of mutant SP-C. Co-immunoprecipitation, domain deletion constructs, siRNA knockdown, immunofluorescence/subcellular fractionation, Western blotting The Journal of biological chemistry High 19815549
2013 In the Tmem67 null (bpck) mouse, canonical Wnt signaling is upregulated in cyst linings and isolated fibroblasts. Analysis of zebrafish tmem67 morphants and the bpck mouse did not support a global loss of planar cell polarity (PCP). Defective cilia loading (not loss of ciliogenesis, basal body docking, or PCP signaling) leads to dysfunctional cilia in MKS3 tissues. Tmem67 null mouse analysis, zebrafish morpholino knockdown, immunofluorescence for PCP markers, Wnt signaling reporter assays, ciliary loading assays Human molecular genetics Medium 23393159
2013 Overexpression of TMEM67 in HEK293 cells activates ERK and JNK signaling pathways (and 4E-BP1 phosphorylation), and these activations are suppressed by pharmacological ERK or JNK inhibitors. In the bpck mouse kidney, phosphorylation of tyrosine-phosphorylated proteins, ERK, and 4E-BP1 is elevated at different postnatal ages. Overexpression in HEK293 cells, pharmacological inhibition, Western blotting for phospho-ERK/JNK/4E-BP1, bpck mouse kidney analysis Cell biology international Medium 23456819
2015 TMEM67 (meckelin) is essential for phosphorylation of the non-canonical Wnt receptor ROR2 upon stimulation with Wnt5a. ROR2 colocalizes and interacts with TMEM67 at the ciliary transition zone (Co-IP). The extracellular N-terminal domain of TMEM67 preferentially binds Wnt5a in an in vitro binding assay. Tmem67 mutant mouse lungs fail to respond to Wnt5a-stimulated epithelial branching morphogenesis, and this pulmonary hypoplasia is rescued by activating RhoA downstream of the Wnt5a-TMEM67-ROR2 axis. Co-immunoprecipitation of TMEM67 and ROR2, in vitro Wnt5a binding assay with N-terminal domain, Wnt5a-stimulated ROR2 phosphorylation assay, Tmem67 mutant mouse lung culture rescue by RhoA activation, immunofluorescence colocalization Disease models & mechanisms High 26035863
2017 In zebrafish tmem67 morphants, Wnt signaling (but not Hedgehog signaling) is suppressed. Wild-type human TMEM67 RNA rescues morphant phenotypes, whereas RNA harboring patient mutations (p.Gly132Ala or p.Tyr920ThrfsX40) does not, functionally validating these as pathogenic. The p.Tyr920ThrfsX40 truncation mutation accelerates TMEM67 protein turnover as shown by Western blotting. Zebrafish morpholino knockdown with mRNA rescue, Western blotting for protein stability, Wnt and Hedgehog signaling assays Scientific reports Medium 28860541
2019 In the Tmem67 knockout mouse cerebellum, loss of TMEM67 leads to aberrantly high canonical Wnt/β-catenin signaling and increased expression of homeobox transcription factor HOXB5. HOXB5 protein occupancy at the β-catenin promoter is significantly increased upon canonical Wnt activation in Tmem67-/- cerebellar neurons, demonstrating that increased canonical Wnt signaling following loss of TMEM67 is directly dependent on HOXB5. Tmem67 knockout mouse analysis, transcriptome profiling, chromatin immunoprecipitation (ChIP) for HOXB5 at β-catenin promoter, Western blotting, immunofluorescence Scientific reports Medium 30931988
2019 TMEM67 is required for regulation of choroid plexus epithelial cell fluid and electrolyte homeostasis in the Wpk rat; TMEM67 point mutation leads to gene dose-dependent hydrocephalus with increased Na+, K+, and Cl- in CSF of severely hydrocephalic animals, while aquaporin 1 and claudin-1 remain normally polarized in all genotypes. Wpk rat model (homozygous and heterozygous), CSF ion analysis, immunofluorescence for AQP1 and claudin-1 localization, MRI/CT volumetric imaging Scientific reports Medium 30705305
2021 In adult zebrafish tmem67 mutants, absence of a single cilium precedes cystogenesis and mTOR signaling is hyperactivated. mTOR inhibition (via hypomorphic mtor strain or rapamycin) ameliorates renal cysts in both embryonic and adult zebrafish tmem67 mutants and rescues ciliary abnormalities in adult mutants, placing mTOR signaling downstream of tmem67 loss. TALEN-generated tmem67 zebrafish mutants, 2D/3D imaging, rapamycin treatment, hypomorphic mtor genetic cross, cilia quantification Journal of the American Society of Nephrology : JASN Medium 33574160
2021 TMEM67 and TMEM237 are unique protein components of the photoreceptor outer segment plasma membrane, as identified by protein correlation profiling using label-free quantitative mass spectrometry comparing OS plasma membrane enriched versus total OS membrane preparations. Label-free quantitative mass spectrometry (protein correlation profiling), subcellular fractionation of photoreceptor outer segments Molecular & cellular proteomics : MCP Medium 33933680
2022 TMEM67 is required for the transition zone (TZ) gating function that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia. TMEM67-KO cells show impaired ciliogenesis, elongated cilia, and perturbed ciliary localization of ARL13B and INPP5E, but normal recruitment of TZ proteins CEP290, RPGRIP1L, and NPHP5. TMEM67 localization extends beyond the TZ into the cilium itself. Ciliopathy-associated TMEM67 mutants restore ARL13B/INPP5E ciliary localization but fail to rescue aberrant cilium elongation. CRISPR/Cas9 TMEM67 knockout in hTERT-RPE1 cells, immunofluorescence for TZ and ciliary proteins, exogenous expression of patient variants Biochemical and biophysical research communications Medium 36334440
2025 TMEM67 contains a cleavage motif in its extracellular domain that is cleaved by the extracellular matrix metalloproteinase ADAMTS9. This cleavage generates two functional forms: a C-terminal portion that localizes to the ciliary transition zone and regulates ciliogenesis, and a non-cleaved full-length form that regulates non-canonical Wnt signaling. A non-cleavable TMEM67 knock-in mouse develops severe ciliopathy phenocopying Tmem67-/- mice but retains normal Wnt signaling, demonstrating that the two functions are uncoupled by cleavage. Patient variants within the cleavage motif disrupt cilia structure and function in mammalian cells and C. elegans. Identification of ADAMTS9 cleavage motif, in vitro cleavage assays, non-cleavable TMEM67 knock-in mouse model, C. elegans patient variant characterization, mammalian cell culture, Wnt signaling assays, ciliary localization studies Nature communications High 40436881
2025 FUT8 interacts with TMEM67 and catalyzes its core fucosylation (N-linked glycosylation). Core fucosylation stabilizes TMEM67 by impeding its degradation via the autophagy pathway, ensuring proper localization of TMEM67 to the ciliary transition zone and promoting cilium formation. Fut8-deficient mice exhibit ciliary defects in kidney, brain, and trachea. Mass spectrometry-based proteomic analysis, co-immunoprecipitation of FUT8 and TMEM67, functional studies in Fut8-deficient mice, autophagy pathway inhibition assays, immunofluorescence for transition zone localization The Journal of cell biology High 40728580
2024 The extracellular cleavage by ADAMTS9 uncouples TMEM67's two functions: the non-cleaved form regulates Wnt signaling while the C-terminal cleavage product mediates ciliogenesis via the transition zone. (Preprint version of the peer-reviewed Nature Communications paper PMID:40436881.) Identification of ADAMTS9 cleavage motif, non-cleavable TMEM67 mouse model, C. elegans patient variant characterization, Wnt signaling assays bioRxivpreprint High 39282264
2022 TMEM67 protein variants associated with mild cholestasis show significantly decreased protein levels in vitro, but their interaction with MKS1 remains unaffected, establishing that MKS1-TMEM67 protein interaction is preserved even with reduced protein stability caused by these hypomorphic variants. Western blotting for TMEM67 protein levels, co-immunoprecipitation of TMEM67 and MKS1 Journal of cellular physiology Low 35621037

Source papers

Stage 0 corpus · 42 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2006 The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nature genetics 219 16415887
2006 The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. American journal of human genetics 188 17160906
2009 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Journal of medical genetics 111 19574260
2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). Journal of medical genetics 105 19508969
2009 Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Human molecular genetics 100 19515853
2009 MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Human mutation 79 19058225
2010 Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human mutation 73 20232449
2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Human mutation 72 17397051
2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Human genetics 58 17377820
2010 Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. Journal of the American Society of Nephrology : JASN 53 20150540
2013 The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Human molecular genetics 49 23393159
2015 The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Disease models & mechanisms 38 26035863
2002 A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. Human genetics 33 12384791
2019 Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation. Scientific reports 25 30705305
2009 MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. The Journal of pediatrics 25 19540516
2019 The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5. Scientific reports 20 30931988
2021 TMEM67, TMEM237, and Embigin in Complex With Monocarboxylate Transporter MCT1 Are Unique Components of the Photoreceptor Outer Segment Plasma Membrane. Molecular & cellular proteomics : MCP 14 33933680
2017 Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. Scientific reports 14 28860541
2018 Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. European journal of human genetics : EJHG 13 29891882
2017 An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. Scientific reports 13 28487520
2021 mtor Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish tmem67 Mutants. Journal of the American Society of Nephrology : JASN 12 33574160
2022 TMEM67 is required for the gating function of the transition zone that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia. Biochemical and biophysical research communications 11 36334440
2009 Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C. The Journal of biological chemistry 9 19815549
2020 Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report. BMC medical genetics 8 32000717
2017 A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. Public health genomics 8 28719906
2021 Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations. Genes 6 34356094
2013 Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3). PloS one 6 24039893
2022 Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing. Prenatal diagnosis 5 36221156
2013 Evidence that TMEM67 causes polycystic kidney disease through activation of JNK/ERK-dependent pathways. Cell biology international 5 23456819
2025 Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis. Nature communications 3 40436881
2024 Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report. BMC medical genomics 3 38844949
2022 Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis. Journal of cellular physiology 3 35621037
2015 A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. International journal of clinical and experimental pathology 3 26191240
2025 FUT8-mediated core fucosylation stabilizes TMEM67 to promote ciliogenesis. The Journal of cell biology 2 40728580
2024 [Genetic analysis of a fetus with Meckel syndrome due to variants of TMEM67 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 38311563
2024 Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene. American journal of ophthalmology case reports 1 39027323
2023 A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene. The Journal of international medical research 1 37910852
2017 EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT). Georgian medical news 1 28726664
2025 Compound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome. Journal of neural transmission (Vienna, Austria : 1996) 0 39849212
2025 Unexpected Diagnosis of Fahr's Disease in a Patient with Severe Obesity and a Heterozygotic Variant in the TMEM67 Gene. Genes 0 41465080
2024 Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesis. bioRxiv : the preprint server for biology 0 39282264
2023 [Analysis of a Chinese pedigree affected with Meckel syndrome due to variants of TMEM67 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 37730223

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