Affinage

CRYBB2

Beta-crystallin B2 · UniProt P43320

Length
205 aa
Mass
23.4 kDa
Annotated
2026-06-09
52 papers in source corpus 18 papers cited in narrative 18 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CRYBB2 encodes βB2-crystallin, a structural lens protein whose principal function is to maintain lens transparency by stabilizing other crystallins against thermal and oxidative denaturation (PMID:18719080). Loss of βB2-crystallin in mice does not block initial lens formation but causes age-related cortical cataracts accompanied by diminished resistance to heat and oxidative stress, defining its role as a chaperone-like stabilizer rather than a structural requirement for transparency per se (PMID:18719080). In humans, dominant CRYBB2 mutations cause several cataract phenotypes — cerulean, Coppock-like, central nuclear, and congenital nuclear cataract — through impaired protein solubility, intracellular aggregation, and unfolded-protein-response activation with apoptosis (PMID:9158139, PMID:24312286, PMID:34650623); recessive disease arises through pseudogene-mediated mechanisms, including gene conversion and a CRYBB2–CRYBB2P1 fusion produced by genomic deletion (PMID:17234267, PMID:36075891). Beyond the lens, βB2-crystallin acts as a neurite-promoting factor in retinal ganglion cells through an autocrine secretion-and-internalization mechanism (PMID:17264069), and is expressed in brain where it sustains parvalbumin-positive GABAergic interneuron numbers and normal sensorimotor gating and hippocampal network excitability (PMID:24096375, PMID:30291584), promotes dendritogenesis via interaction with the actin-regulatory protein Tmsb4X (PMID:29864422), and supports gonadal germ cell and granulosa cell survival through CaMKIV/Bcl-2 signaling (PMID:22948125, PMID:25245288). A role in lens extracellular-matrix homeostasis and lens–vascular interactions has also been established by transcriptomic and zebrafish rescue evidence (PMID:41989229).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 1997 Medium

    Established CRYBB2 as a cataract gene by linking a chain-termination mutation to autosomal dominant cerulean cataract, implicating loss-of-function in lens opacity.

    Evidence Genetic linkage analysis and mutation sequencing in a cataract family

    PMID:9158139

    Open questions at the time
    • No biochemical demonstration of how truncation impairs protein function
    • Single family/lab characterization
  2. 2000 Medium

    Showed the same exon-6 mutation produces distinct clinical cataract phenotypes, indicating modifier factors shape disease expression.

    Evidence Linkage and mutational analysis by sequencing and ARMS assay

    PMID:10634616

    Open questions at the time
    • Modifier factors not identified
    • No mechanistic link from genotype to differing phenotypes
  3. 2004 Low

    Identified the W151C missense mutation in central nuclear cataract and predicted reduced solubility as the pathogenic mechanism.

    Evidence PCR, sequencing, and computational hydropathy analysis

    PMID:15452067

    Open questions at the time
    • Solubility impairment was predicted computationally, not measured
    • No cellular or biochemical validation at this stage
  4. 2007 Medium

    Revealed a non-lens function: βB2-crystallin promotes axon growth in regenerating retinal ganglion cells, likely via autocrine secretion and internalization.

    Evidence Proteomics, overexpression/knockdown, conditioned medium, and live imaging of GFP-tagged protein

    PMID:17264069

    Open questions at the time
    • Receptor/uptake machinery for internalization not identified
    • Signaling pathway downstream of secreted crystallin unknown
  5. 2007 Medium

    Expanded the mutational spectrum beyond exon 6 (D128V) and implicated structural disruption, and demonstrated pseudogene-mediated gene conversion from CRYBB2P1 as a source of pathogenic variants.

    Evidence Sequencing, RFLP, computational structural analysis (D128V); linkage, sequencing, haplotype analysis (gene conversion)

    PMID:17234267 PMID:17653036

    Open questions at the time
    • D128V mechanism is computational prediction only
    • Frequency and triggers of gene conversion not quantified
  6. 2008 High

    Defined the core lens function via knockout: βB2-crystallin stabilizes other crystallins against thermal and oxidative damage, explaining age-related cataract without preventing lens formation.

    Evidence Mouse gene targeting with slit-lamp, immunoblot, 2D gels, heat denaturation and oxidative stress assays, EM

    PMID:18719080

    Open questions at the time
    • Direct client crystallins stabilized not enumerated biochemically
    • Molecular basis of stabilization (chaperone-like activity) not structurally resolved
  7. 2008 Medium

    Showed a splice-site mutation produces an aberrant protein with a 19-aa insertion and established brain expression of βB2-crystallin with downstream calpain-3 upregulation, linking it to Ca2+-related pathology.

    Evidence Linkage, sequencing, in situ hybridization, IHC, expression arrays, qRT-PCR in mouse

    PMID:18385073

    Open questions at the time
    • Causal link between calpain-3 upregulation and phenotype not established
    • Functional consequence of the insertion at protein level unknown
  8. 2010 Low

    Documented additional cataract variants (W59C; G54A splice-site) and proposed allele-dependent consequences including NMD or dominant-negative hybrid protein.

    Evidence PCR, sequencing, splice-site prediction analysis

    PMID:21031021

    Open questions at the time
    • NMD vs hybrid-protein outcomes predicted computationally, not experimentally confirmed
    • Dominant-negative activity not demonstrated
  9. 2012 Medium

    Established a gonadal role: Crybb2 loss reduces male fertility via disordered germ cell proliferation/apoptosis through decreased CaMKIV and Bcl-2.

    Evidence Mouse knockout, histology, IHC, western blot, proliferation/apoptosis assays

    PMID:22948125

    Open questions at the time
    • Whether βB2-crystallin acts directly or indirectly on CaMKIV/Bcl-2 unclear
    • No reconstitution of the signaling link
  10. 2013 High

    Demonstrated mutant-protein aggregation in lens epithelial cells, providing cellular validation of impaired solubility for W151C; and defined hippocampal network roles for βB2-crystallin via the O377 mutant.

    Evidence Cell transfection/aggregation assay (W151C); behavioral PPI, voltage-sensitive dye imaging, calcium measurement, IHC, expression analysis (O377 mouse)

    PMID:24096375 PMID:24312286

    Open questions at the time
    • Aggregation studied in heterologous cells, not native fiber cells
    • Mechanism linking crystallin to interneuron loss and network excitability not resolved
  11. 2014 Medium

    Extended the gonadal role to females: Crybb2 deficiency reduces follicle numbers and granulosa cell survival with decreased Bcl-2, Cdk4, and Ccnd2.

    Evidence Mouse knockout, follicle counting, superovulation, hormone assays, RT-PCR/western blot in granulosa cells

    PMID:25245288

    Open questions at the time
    • Direct molecular target of βB2-crystallin in granulosa cells unknown
    • Mechanistic overlap with male CaMKIV/Bcl-2 pathway not tested
  12. 2018 High

    Identified Tmsb4X as a functional partner through which βB2-crystallin promotes dendritogenesis, and consolidated the GABAergic phenotype across three independent C-terminal allelic lines.

    Evidence Crybb2 knockdown and Tmsb4X overexpression with co-localization and dendrite analysis; PPI and parvalbumin IHC across O377, Philly, Aey2 lines

    PMID:29864422 PMID:30291584

    Open questions at the time
    • Physical interaction with Tmsb4X shown by co-localization/epistasis, not direct binding
    • How crystallin influences parvalbumin interneuron number mechanistically unresolved
  13. 2021 Medium

    Defined a cellular pathomechanism for the I21N mutation: perinuclear accumulation, reduced expression, UPR activation, and apoptosis.

    Evidence GFP-fusion transfection in HeLa cells, immunofluorescence, flow-cytometry apoptosis, RT-qPCR, western blot, UPR analysis

    PMID:34650623

    Open questions at the time
    • Studied in HeLa rather than lens cells
    • Which UPR branch drives apoptosis not dissected
  14. 2022 Medium

    Established a recessive loss-of-function mechanism through a genomic deletion creating a CRYBB2-CRYBB2P1 fusion gene carrying a premature stop.

    Evidence Linkage, Sanger sequencing, PCR-based chromosome walking

    PMID:36075891

    Open questions at the time
    • Protein-level fate of the fusion transcript not characterized
    • Single family
  15. 2026 High

    Linked a splice-site variant to lens ECM homeostasis and lens-vascular interactions, with in vivo zebrafish rescue confirming a developmental role in fiber differentiation and hyaloid vasculature.

    Evidence WES, RNA-seq, qRT-PCR, immunostaining, adhesion assays, zebrafish crybb2 disruption with mRNA rescue, vascular imaging, scRNA-seq

    PMID:41989229

    Open questions at the time
    • Direct molecular connection between βB2-crystallin and collagen IV/laminin deposition not defined
    • Mechanism of lens-vascular crosstalk unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • The molecular basis unifying βB2-crystallin's lens chaperone activity with its diverse extracellular and intracellular non-lens functions remains unresolved.
  • No receptor or binding partner identified for the secreted neurite-promoting form
  • Direct biochemical evidence for crystallin clients and for the Tmsb4X interaction lacking
  • How a single protein coordinates lens stabilization, neuronal, gonadal, and ECM roles is unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 1 GO:0008092 cytoskeletal protein binding 1
Localization
GO:0005829 cytosol 2 GO:0005576 extracellular region 1
Pathway
GO:0005856 cytoskeleton 1 R-HSA-1474244 Extracellular matrix organization 1
Partners
TMSB4X

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1997 A chain-termination mutation in CRYBB2 is associated with autosomal dominant cerulean cataract, establishing that loss-of-function of βB2-crystallin leads to lens opacity. Genetic linkage analysis and mutation sequencing in a cataract family Human molecular genetics Medium 9158139
2000 A mutation in exon 6 of CRYBB2 (identical to the cerulean cataract mutation) causes Coppock-like cataract, demonstrating that the same CRYBB2 mutation can produce distinct clinical cataract phenotypes, implying modifier factors influence cataract formation. Linkage analysis, mutational analysis by sequencing and ARMS assay Investigative ophthalmology & visual science Medium 10634616
2004 A W151C missense mutation in exon 6 of CRYBB2 causes central nuclear cataract; hydropathy analysis predicted increased hydrophobicity at the mutation site, suggesting impaired protein solubility as the pathogenic mechanism. PCR, sequencing, protein structural/hydropathy analysis Investigative ophthalmology & visual science Low 15452067
2007 βB2-crystallin (crybb2) is upregulated in regenerating retinal ganglion cells; overexpression of crybb2 in RGCs and hippocampal neurons increased axonogenesis, and conditioned medium from crybb2-transfected cells supported axon growth, indicating crybb2 acts as a neurite-promoting factor, likely through an autocrine mechanism involving protein secretion and internalization. Proteomics, immunohistochemistry, overexpression/knockdown assays, real-time imaging of GFP-tagged crybb2 internalization, conditioned medium experiments Molecular & cellular proteomics : MCP Medium 17264069
2007 A D128V mutation in exon 5 of CRYBB2 (outside of exon 6) causes congenital cataract; structural modeling predicted disruption of the random coil structure between amino acids 126–139, increased hydrophobicity, and altered electrostatic potential around the mutation site. Sequencing, RFLP, computational structural analysis Molecular vision Low 17653036
2007 CRYBB2 mutations in a Chilean cataract family arise from gene conversion from the adjacent pseudogene CRYBB2P1 (>97% homology), demonstrating that pseudogene-mediated gene conversion is a mechanism for generating CRYBB2 pathogenic variants. Linkage analysis, gene sequencing, haplotype analysis Ophthalmology Medium 17234267
2008 Targeted knockout of mouse Crybb2 does not prevent transparent lens development but causes age-related posterior and anterior cortical cataracts; Crybb2-null lenses showed decreased resistance to heat-induced denaturation and oxidative stress, indicating βB2-crystallin maintains lens transparency by stabilizing other crystallins against thermal and oxidative damage. Gene targeting in ES cells, slit-lamp biomicroscopy, immunoblot, 2D gel electrophoresis, heat denaturation assay, oxidative stress assay, electron microscopy Investigative ophthalmology & visual science High 18719080
2008 A novel splice-site mutation (A→T at end of intron 5) in mouse Crybb2 causes alternative splicing with a 57-bp insertion and 19 additional amino acids in the protein; βB2-crystallin is expressed in cerebellum, olfactory bulb, cerebral cortex, and hippocampus of the brain, and the mutation leads to upregulation of calpain-3 in brain, implicating Ca2+ in the pathological processes. Linkage analysis, sequencing, in situ hybridization, immunohistochemistry, differential expression arrays, quantitative RT-PCR Investigative ophthalmology & visual science Medium 18385073
2010 A W59C missense mutation and a splice-site variant (G54A) in CRYBB2 cause cataract; the G54A splice-site variant is predicted to cause nonsense-mediated decay or production of a small hybrid protein with dominant-negative function in the lens, demonstrating distinct molecular consequences of the same variant depending on heterozygosity. PCR, sequencing, splice-site prediction analysis Molecular vision Low 21031021
2012 Crybb2 knockout male mice have reduced fertility associated with disordered germ cell proliferation and apoptosis in the testis; the mechanism involves decreased Ca2+-calmodulin-dependent protein kinase IV (CaMKIV) and reduced Bcl-2 levels, establishing a role for βB2-crystallin in spermatogonial survival signaling. Targeted gene knockout, histology, immunohistochemistry, western blotting, proliferation and apoptosis assays International journal of molecular medicine Medium 22948125
2013 The W151C missense mutation in CRYBB2 causes βB2-crystallin to form intracellular aggregates (~34.7% of transfected cells) in human lens epithelial cells, whereas wild-type βB2-crystallin is evenly distributed, demonstrating that the mutation impairs protein solubility and causes abnormal aggregation. Cell transfection, fluorescence microscopy, protein aggregation assay in human lens epithelial cells PloS one Medium 24312286
2013 The Crybb2 O377 mouse mutant (with a splice-site mutation causing 19-aa insertion) shows altered sensorimotor gating, reduced hippocampal size, increased intracellular Ca2+ levels and apoptosis in hippocampus, elevated calpain-3 expression, downregulated NMDA receptor subunit expression, decreased parvalbumin-positive interneurons, and increased input-to-output neuronal activity in the dentate gyrus, establishing a role for βB2-crystallin in hippocampal network function. Behavioral testing (PPI), neuroanatomy, high-speed voltage-sensitive dye imaging, calcium measurement, immunohistochemistry, gene expression analysis Mammalian genome High 24096375
2014 Crybb2-deficient female mice have reduced numbers of primordial, secondary, and pre-ovulatory follicles and increased atretic follicles, associated with decreased expression of survival/cell cycle genes Bcl-2, Cdk4, and Ccnd2 in granulosa cells, establishing a role for βB2-crystallin in granulosa cell proliferation and survival. Crybb2 knockout mouse model, follicle counting, superovulation assay, hormone measurements, RT-PCR/western blot in granulosa cells Biochemical and biophysical research communications Medium 25245288
2018 Crybb2 contributes to dendritogenesis in hippocampal neurons in vitro and in vivo; Crybb2 co-localizes with Tmsb4X (thymosin beta-4) at actin-enriched cell ruffles, and Tmsb4X overexpression inhibits dendritogenesis phenocopying Crybb2 knockdown, indicating Crybb2 promotes dendrite morphogenesis through an interaction with the actin-regulatory protein Tmsb4X. Crybb2 knockdown, Tmsb4X overexpression, co-localization by immunofluorescence, in vivo and in vitro dendrite morphology analysis Biochemical and biophysical research communications Medium 29864422
2018 Three distinct Crybb2 mouse mutant lines (O377, Philly, Aey2), all affecting the C-terminal end of the protein, consistently show altered prepulse inhibition (PPI) and reduced parvalbumin-positive interneuron numbers in the thalamic reticular nucleus (TRN), with the direction of PPI change mirroring TRN PV+ cell number, establishing a role for βB2-crystallin in modulating GABAergic interneuron numbers and sensorimotor gating. Behavioral phenotyping (PPI, open field, social discrimination, Y-maze), immunohistochemistry for parvalbumin in multiple brain regions across three allelic mutant lines Molecular neurobiology High 30291584
2021 The I21N missense mutation in CRYBB2 causes the mutant protein to accumulate around the nucleus (rather than being evenly distributed), decreases protein expression levels, activates the unfolded protein response (UPR), and increases cell apoptosis in HeLa cells, establishing a mechanism by which this mutation causes congenital nuclear cataract. Transfection of GFP-fused WT vs. I21N-CRYBB2 into HeLa cells, immunofluorescence, flow cytometry apoptosis assay, RT-qPCR, western blotting, UPR pathway analysis Experimental and therapeutic medicine Medium 34650623
2022 A large homozygous genomic deletion in a Pakistani family creates a CRYBB2-CRYBB2P1 fusion gene (exons 1–5 of CRYBB2 fused to exon 6 of CRYBB2P1 harboring the p.Gln155* mutation), causing autosomal recessive congenital cataract, demonstrating a distinct recessive mechanism of CRYBB2 loss-of-function via gene fusion/deletion. Linkage analysis, Sanger sequencing, PCR-based chromosome walking Human genome variation Medium 36075891
2026 A novel CRYBB2 splice-site variant disrupts normal splicing and is associated with altered βB2-crystallin-linked transcriptional programs and ECM homeostasis including changes in collagen IV/laminin deposition and impaired cell-matrix adhesion; in zebrafish, crybb2 disruption caused lens fiber cell differentiation defects and abnormal hyaloid vascular patterning with altered tracer distribution, partially rescued by crybb2 mRNA, establishing a role for βB2-crystallin in lens ECM homeostasis and lens-vascular interactions. WES, Sanger sequencing, RNA sequencing, qRT-PCR, immunostaining, cell adhesion assays, zebrafish crybb2 disruption with mRNA rescue, Tg(flk1:EGFP) vascular imaging, tracer assays, single-cell RNA sequencing Investigative ophthalmology & visual science High 41989229

Source papers

Stage 0 corpus · 52 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1997 Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Human molecular genetics 224 9158139
2009 Adiponectin activates AMP-activated protein kinase in muscle cells via APPL1/LKB1-dependent and phospholipase C/Ca2+/Ca2+/calmodulin-dependent protein kinase kinase-dependent pathways. The Journal of biological chemistry 178 19520843
2000 Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Investigative ophthalmology & visual science 126 10634616
2007 Elongation of axons during regeneration involves retinal crystallin beta b2 (crybb2). Molecular & cellular proteomics : MCP 93 17264069
1991 Reciprocal modulation of thyrotropin actions by P1-purinergic agonists in FRTL-5 thyroid cells. Inhibition of cAMP pathway and stimulation of phospholipase C-Ca2+ pathway. The Journal of biological chemistry 72 1648085
1993 Enkephalin activates the phospholipase C/Ca2+ system through cross-talk between opioid receptors and P2-purinergic or bradykinin receptors in NG 108-15 cells. A permissive role for pertussis toxin-sensitive G-proteins. The Biochemical journal 69 8382479
1997 Sphingosine 1-phosphate stimulates hydrogen peroxide generation through activation of phospholipase C-Ca2+ system in FRTL-5 thyroid cells: possible involvement of guanosine triphosphate-binding proteins in the lipid signaling. Endocrinology 59 8977407
2004 Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene. Investigative ophthalmology & visual science 51 15452067
1999 Activation of phospholipase C-Ca2+ system by sphingosine 1-phosphate in CHO cells transfected with Edg-3, a putative lipid receptor. FEBS letters 51 9928946
1996 Involvement of pertussis toxin-sensitive GTP-binding proteins in sphingosine 1-phosphate-induced activation of phospholipase C-Ca2+ system in HL60 leukemia cells. FEBS letters 50 8603702
1996 Thromboxane A2-mediated shape change: independent of Gq-phospholipase C--Ca2+ pathway in rabbit platelets. British journal of pharmacology 40 8882602
2008 Targeted knockout of the mouse betaB2-crystallin gene (Crybb2) induces age-related cataract. Investigative ophthalmology & visual science 38 18719080
2005 Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family. Molecular vision 37 16179907
2015 RPS3 regulates melanoma cell growth and apoptosis by targeting Cyto C/Ca2+/MICU1 dependent mitochondrial signaling. Oncotarget 35 26336993
2010 Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms. Molecular vision 34 21031021
1997 Nociceptin/orphanin FQ activates protein kinase C, and this effect is mediated through phospholipase C/Ca2+ pathway. Biochemical and biophysical research communications 34 9388473
2008 Novel allele of crybb2 in the mouse and its expression in the brain. Investigative ophthalmology & visual science 31 18385073
2008 Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts. Molecular vision 31 18449377
2012 Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract. Molecular vision 30 22312185
2007 Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Ophthalmology 29 17234267
2007 Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene. Molecular vision 26 17653036
1998 Stimulatory and inhibitory actions of lysophosphatidylcholine, depending on its fatty acid residue, on the phospholipase C/Ca2+ system in HL-60 leukaemia cells. The Biochemical journal 26 9820828
2013 A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin. PloS one 23 24312286
2011 Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family. Molecular vision 22 21245961
2009 Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2. Molecular vision 21 19649175
2008 A novel mutation in CRYBB2 responsible for inherited coronary cataract. Eye (London, England) 21 18617901
2002 Lysophosphatidylcholine alters enterocyte monolayer permeability via a protein kinase C/Ca2+ mechanism. Pediatric surgery international 21 12471472
2013 Crybb2 coding for βB2-crystallin affects sensorimotor gating and hippocampal function. Mammalian genome : official journal of the International Mammalian Genome Society 20 24096375
1995 Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin beta A3/A1), Crybb2 (crystallin beta B2), Gja8 (MP70), and Lim2 (MP19). Genomics 20 8666393
2014 Acidic pH increases cGMP accumulation through the OGR1/phospholipase C/Ca(2+)/neuronal NOS pathway in N1E-115 neuronal cells. Cellular signalling 18 25025574
1993 UTP activates phospholipase C-Ca2+ system through a receptor different from the 53-kDa ATP receptor in PC12 cells. Biochemical and biophysical research communications 18 8363617
1995 The t(11;22)(p15.5;q11.23) in a retroperitoneal rhabdoid tumor also includes a regional deletion distal to CRYBB2 on 22q. Genes, chromosomes & cancer 17 7669732
2018 Crybb2 Mutations Consistently Affect Schizophrenia Endophenotypes in Mice. Molecular neurobiology 16 30291584
2014 Crybb2 deficiency impairs fertility in female mice. Biochemical and biophysical research communications 16 25245288
2007 Bradykinin enhances reactive oxygen species generation, mitochondrial injury, and cell death induced by ATP depletion--a role of the phospholipase C-Ca(2+) pathway. Free radical biology & medicine 15 17664134
2014 Congenital cataracts: de novo gene conversion event in CRYBB2. Molecular vision 13 25489230
2018 Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract. International journal of ophthalmology 10 30364188
2012 A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic genetics 10 22846113
2018 Crybb2 associates with Tmsb4X and is crucial for dendrite morphogenesis. Biochemical and biophysical research communications 9 29864422
2016 A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family. Journal of ophthalmology 9 28025620
2012 Decreased levels of Ca²⁺-calmodulin-dependent protein kinase IV in the testis as a contributing factor to reduced fertility in male Crybb2⁻/⁻ mice. International journal of molecular medicine 8 22948125
2020 A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family. European journal of ophthalmology 6 32498547
2015 Analyzing the Association of Polymorphisms in the CRYBB2 Gene with Prostate Cancer Risk in African Americans. Anticancer research 6 25964531
2023 Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report. BMC ophthalmology 5 37076855
2020 Polymorphisms in CRYBB2 encoding βB2-crystallin are associated with antisaccade performance and memory function. Translational psychiatry 5 32317624
2016 Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract. Molecular syndromology 5 27385965
2018 A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract. Journal of the Formosan Medical Association = Taiwan yi zhi 4 29395391
2024 Plain language summary of the FOENIX-CCA2 study: futibatinib for people with advanced bile duct cancer. Future oncology (London, England) 3 38884254
2022 A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts. Human genome variation 3 36075891
2021 Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts. Experimental and therapeutic medicine 2 34650623
2023 A Novel CRYBB2 Silent Variant in Autosomal Dominant Congenital Cataracts (ADCC) in Pakistani families. Pakistan journal of medical sciences 1 37680813
2026 A Novel CRYBB2 Splicing Mutation Is Associated With Lens Extracellular Matrix Remodeling and Vascular Alterations in Congenital Cataract. Investigative ophthalmology & visual science 0 41989229

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