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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CRYAB
crystallin alpha B
Chromosome 11 Β· 11q23.1
NCBI Gene: 1410Ensembl: ENSG00000109846.10HGNC: HGNC:2389UniProt: A0A024R3B9
400PubMed Papers
24Diseases
0Drugs
18Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of apoptotic processprotein stabilizationamyloid-beta bindingstructural molecule activitymyofibrillar myopathy 2dilated cardiomyopathy 1IIfatal infantile hypertonic myofibrillar myopathyPosterior polar cataract
✦AI Summary

CRYAB (crystallin alpha B) is a small heat shock protein functioning primarily as a molecular chaperone that prevents protein aggregation under stress conditions 1. Beyond its canonical role in lens transparency, CRYAB stabilizes various proteins including FTH1 and ATP6V1A through proteasome-dependent mechanisms, while also localizing to mitochondria where it exhibits antiapoptotic activity 23. CRYAB regulates protein phase separation into condensates, with phosphorylation at serine 59 altering condensate fluidity and promoting aggregation 4. Dysfunction of CRYAB contributes to multiple diseases. Mutations cause myofibrillar myopathy (p.Gly154Ser) and hereditary optic atrophy (p.Glu105Lys) through impaired chaperone activity and increased apoptosis 13. In ischemic cardiomyopathy, elevated CRYAB phosphorylation drives condensatopathy and ventricular remodeling 4. Conversely, CRYAB overexpression promotes pathological processes in cancer, enhancing colorectal cancer stem cell properties via Wnt/Ξ²-catenin signaling and gastric cancer angiogenesis and metastasis 56. Additionally, molecular mimicry between CRYAB and Epstein-Barr virus EBNA1 generates cross-reactive antibodies associated with multiple sclerosis risk 7. These findings identify CRYAB phosphorylation and protein condensate dynamics as therapeutic targets for cardiomyopathy and suggest CRYAB inhibition may benefit certain cancers.

Sources cited
1
CRYAB stabilizes FTH1 protein via proteasome mechanism and regulates osteogenic differentiation through ferroptosis suppression
PMID: 38787373
2
CRYAB maintains colorectal cancer stem cell properties via Wnt/Ξ²-catenin pathway activation
PMID: 36204880
3
CRYAB mutations (p.Gly154Ser) cause myofibrillar myopathy with protein aggregation and muscle pathology in zebrafish models
PMID: 37511242
4
CRYAB mutation (p.Glu105Lys) causes hereditary optic atrophy through impaired mitochondrial chaperone function, reduced apoptosis suppression, and retinal ganglion cell degeneration
PMID: 39561005
5
CRYAB is a molecular mimicry target of EBV EBNA1, generating cross-reactive antibodies associated with multiple sclerosis risk
PMID: 40063790
6
CRYAB overexpression in gastric cancer correlates with increased angiogenesis, metastasis, and poor prognosis
PMID: 31702632
7
CRYAB phosphorylation at serine 59 induces condensatopathy with reduced condensate fluidity, protein aggregation, and adverse post-myocardial infarction remodeling
PMID: 39932799
8
CRYAB mutations are identified as causative genes in myofibrillar myopathy, a hereditary disorder involving Z-line protein dysfunction
PMID: 24291893
Disease Associationsβ“˜24
myofibrillar myopathy 2Open Targets
0.75Strong
dilated cardiomyopathy 1IIOpen Targets
0.73Strong
fatal infantile hypertonic myofibrillar myopathyOpen Targets
0.71Strong
Posterior polar cataractOpen Targets
0.65Moderate
Alpha-B crystallin-related late-onset distal myopathyOpen Targets
0.64Moderate
cataract 16 multiple typesOpen Targets
0.64Moderate
Partial congenital cataractOpen Targets
0.62Moderate
early-onset non-syndromic cataractOpen Targets
0.44Moderate
Developmental cataractOpen Targets
0.42Moderate
early-onset nuclear cataractOpen Targets
0.39Weak
early-onset posterior polar cataractOpen Targets
0.37Weak
familial isolated dilated cardiomyopathyOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
cardiomyopathy, familial restrictive, 1Open Targets
0.34Weak
cardiomyopathyOpen Targets
0.33Weak
Abnormality of the cardiovascular systemOpen Targets
0.19Weak
myofibrillar myopathy, dominantOpen Targets
0.17Weak
hypertrophic cardiomyopathyOpen Targets
0.17Weak
dilated cardiomyopathyOpen Targets
0.16Weak
hypertensionOpen Targets
0.12Weak
Cardiomyopathy, dilated, 1IIUniProt
Cataract 16, multiple typesUniProt
Myopathy, myofibrillar, 2A, adult-onsetUniProt
Myopathy, myofibrillar, 2B, infantile-onsetUniProt
Pathogenic Variants18
NM_001289808.2(CRYAB):c.101del (p.Glu34fs)Pathogenic
Dilated cardiomyopathy 1II
β˜…β˜†β˜†β˜†2025β†’ Residue 34
NM_001289808.2(CRYAB):c.32_33del (p.Arg11fs)Pathogenic
Dilated cardiomyopathy 1II
β˜…β˜†β˜†β˜†2025β†’ Residue 11
NM_001289808.2(CRYAB):c.527A>G (p.Ter176Trp)Likely pathogenic
Cataract 16 multiple types;Dilated cardiomyopathy 1II
β˜…β˜†β˜†β˜†2025β†’ Residue 176
NM_001289808.2(CRYAB):c.59C>G (p.Pro20Arg)Pathogenic
Dilated cardiomyopathy 1II
β˜…β˜†β˜†β˜†2025β†’ Residue 20
NM_001289808.2(CRYAB):c.60del (p.Ser21fs)Pathogenic
Myofibrillar myopathy 2|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 21
NM_001289808.2(CRYAB):c.145del (p.Leu49fs)Pathogenic
Dilated cardiomyopathy 1II
β˜…β˜†β˜†β˜†2025β†’ Residue 49
NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly)Likely pathogenic
Cardiomyopathy, familial restrictive, 1|Dilated cardiomyopathy 1II
β˜…β˜†β˜†β˜†2023β†’ Residue 109
NM_001289808.2(CRYAB):c.100dup (p.Glu34fs)Likely pathogenic
CRYAB-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 34
NM_001289808.2(CRYAB):c.466del (p.Glu156fs)Pathogenic
Developmental cataract
β˜…β˜†β˜†β˜†2022β†’ Residue 156
NM_001289808.2(CRYAB):c.76C>T (p.Gln26Ter)Pathogenic
Dilated cardiomyopathy 1II
β˜…β˜†β˜†β˜†2022β†’ Residue 26
NM_001289808.2(CRYAB):c.119del (p.Thr40fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 40
NM_001289808.2(CRYAB):c.514del (p.Ala172fs)Pathogenic
Myofibrillar myopathy 2
β˜…β˜†β˜†β˜†2019β†’ Residue 172
NM_001289808.2(CRYAB):c.325G>C (p.Asp109His)Pathogenic
Myofibrillar myopathy 2
β˜†β˜†β˜†β˜†2012β†’ Residue 109
NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser)Pathogenic
Cataract 16 multiple types
β˜†β˜†β˜†β˜†2006β†’ Residue 20
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly)Pathogenic
Myofibrillar myopathy 2
β˜†β˜†β˜†β˜†2006β†’ Residue 120
NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn)Pathogenic
Cataract 16 multiple types
β˜†β˜†β˜†β˜†2006β†’ Residue 140
NM_001289808.2(CRYAB):c.450del (p.Lys150fs)Pathogenic
Cataract 16 multiple types
β˜†β˜†β˜†β˜†2001β†’ Residue 150
NM_001289808.2(CRYAB):c.525del (p.Lys175fs)Likely pathogenic
Cataract 16 multiple types
β˜†β˜†β˜†β˜†β†’ Residue 175
View on ClinVar β†—
Related Genes
FLNCProtein interaction100%LDB3Protein interaction97%CRYGSProtein interaction96%HSP90AA1Protein interaction96%TP53Protein interaction96%HSP90AB1Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Brain
15%
Lung
2%
Ovary
1%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CRYABFLNCLDB3CRYGSHSP90AA1TP53HSP90AB1
PROTEIN STRUCTURE
Preparing viewer…
PDB4M5S Β· 1.37 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.18LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.68 [0.41–1.18]
RankingsWhere CRYAB stands among ~20K protein-coding genes
  • #732of 20,598
    Most Researched400 Β· top 5%
  • #2,263of 5,498
    Most Pathogenic Variants18
  • #12,365of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedCRYAB
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
CRYAB suppresses ferroptosis and promotes osteogenic differentiation of human bone marrow stem cells via binding and stabilizing FTH1.
PMID: 38787373
Aging (Albany NY) Β· 2024
1.00
2
Effects of the CRYAB gene on stem cell-like properties of colorectal cancer and its mechanism.
PMID: 36204880
J Cancer Res Ther Β· 2022
0.90
3
Human Mutated
PMID: 37511242
Int J Mol Sci Β· 2023
0.80
4
Single-cell transcriptomics reveal extracellular vesicles secretion with a cardiomyocyte proteostasis signature during pathological remodeling.
PMID: 36681760
Commun Biol Β· 2023
0.72
5
Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy.
PMID: 39561005
JCI Insight Β· 2024
0.70