CRYAB Chromosome 11
Crystallin alpha B
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What This Gene Does
Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019]
Gene Info
Gene Group
Small heat shock proteins
Locus Type
gene with protein product
Location
11q23.1
Ensembl
ENSG00000109846
Associated Conditions (13)
Dilated cardiomyopathy 1II
Cardiovascular phenotype
Developmental cataract
Cataract 16 multiple types
Fatal infantile hypertonic myofibrillar myopathy
Myofibrillar myopathy 2
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
Congestive heart failure
Cardiomyopathy
CRYAB-related disorder
familial restrictive
1
Key Variants
RS1057520897
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1II, Cardiovascular phenotype, Dilated cardiomyopathy 1II
Health Risk
RS144451841
Conflicting classifications of pathogenicity
Developmental cataract, Dilated cardiomyopathy 1II, Developmental cataract
Health Risk
RS149787233
Conflicting classifications of pathogenicity
Cataract 16 multiple types, Fatal infantile hypertonic myofibrillar myopathy, Myofibrillar myopathy 2
Health Risk
RS150516929
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1II, Primary familial hypertrophic cardiomyopathy, Developmental cataract
Health Risk
RS1566402173
Conflicting classifications of pathogenicity
Myofibrillar myopathy 2, CRYAB-related disorder, Myofibrillar myopathy 2
Health Risk
RS1965414571
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1II, Cardiovascular phenotype, Dilated cardiomyopathy 1II
Health Risk
RS1965462205
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Dilated cardiomyopathy 1II, Cardiovascular phenotype
Health Risk
RS2234704
Conflicting classifications of pathogenicity
Myofibrillar myopathy 2, Fatal infantile hypertonic myofibrillar myopathy, Cataract 16 multiple types
Health Risk
RS281865142
Conflicting classifications of pathogenicity
Myofibrillar myopathy 2, Dilated cardiomyopathy 1II, Cardiovascular phenotype
Health Risk
RS375933774
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1II, Dilated cardiomyopathy 1II
Health Risk
RS387907338
Conflicting classifications of pathogenicity
Cataract 16 multiple types, Dilated cardiomyopathy 1II, Myofibrillar myopathy 2
Health Risk
RS397516686
Conflicting classifications of pathogenicity
Cardiomyopathy, Dilated cardiomyopathy 1II, Cataract 16 multiple types
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057520897 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1II, Cardiovascular phenotype, Dilated cardiomyopathy 1II |
| RS144451841 | Health Risk | Conflicting classifications of pathogenicity | Developmental cataract, Dilated cardiomyopathy 1II, Developmental cataract |
| RS149787233 | Health Risk | Conflicting classifications of pathogenicity | Cataract 16 multiple types, Fatal infantile hypertonic myofibrillar myopathy, Myofibrillar myopathy 2 |
| RS150516929 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1II, Primary familial hypertrophic cardiomyopathy, Developmental cataract |
| RS1566402173 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 2, CRYAB-related disorder, Myofibrillar myopathy 2 |
| RS1965414571 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1II, Cardiovascular phenotype, Dilated cardiomyopathy 1II |
| RS1965462205 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Dilated cardiomyopathy 1II, Cardiovascular phenotype |
| RS2234704 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 2, Fatal infantile hypertonic myofibrillar myopathy, Cataract 16 multiple types |
| RS281865142 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 2, Dilated cardiomyopathy 1II, Cardiovascular phenotype |
| RS375933774 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1II, Dilated cardiomyopathy 1II |
| RS387907338 | Health Risk | Conflicting classifications of pathogenicity | Cataract 16 multiple types, Dilated cardiomyopathy 1II, Myofibrillar myopathy 2 |
| RS397516686 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Dilated cardiomyopathy 1II, Cataract 16 multiple types |
| RS577253222 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1II, Dilated cardiomyopathy 1II |
| RS781853968 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 2, Cataract 16 multiple types, Fatal infantile hypertonic myofibrillar myopathy |
| RS782067034 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Dilated cardiomyopathy 1II, Cardiovascular phenotype |
| RS886047687 | Health Risk | Conflicting classifications of pathogenicity | Fatal infantile hypertonic myofibrillar myopathy, Cataract 16 multiple types, Dilated cardiomyopathy 1II |
| RS1114167341 | Health Risk | Likely pathogenic | Cardiomyopathy, familial restrictive, 1 |
| RS2137378244 | Health Risk | Likely pathogenic | Cataract 16 multiple types, Cataract 16 multiple types |
| RS2137384588 | Health Risk | Likely pathogenic | — |
| RS2497884970 | Health Risk | Likely pathogenic | CRYAB-related disorder, CRYAB-related disorder |
| RS104894201 | Health Risk | Pathogenic | Myofibrillar myopathy 2, Myofibrillar myopathy 2 |
| RS1566402656 | Health Risk | Pathogenic | Cataract 16 multiple types, Cataract 16 multiple types |
| RS1965352990 | Health Risk | Pathogenic | Myofibrillar myopathy 2, Myofibrillar myopathy 2 |
| RS1965456387 | Health Risk | Pathogenic | Dilated cardiomyopathy 1II, Dilated cardiomyopathy 1II |
| RS1965461881 | Health Risk | Pathogenic | Dilated cardiomyopathy 1II, Dilated cardiomyopathy 1II |
| RS2137384847 | Health Risk | Pathogenic | Dilated cardiomyopathy 1II, Dilated cardiomyopathy 1II |
| RS2497874840 | Health Risk | Pathogenic | Developmental cataract, Developmental cataract |
| RS281865141 | Health Risk | Pathogenic | Myofibrillar myopathy 2, Myofibrillar myopathy 2 |
| RS387907336 | Health Risk | Pathogenic | Cataract 16 multiple types, Cataract 16 multiple types |
| RS387907337 | Health Risk | Pathogenic | Cataract 16 multiple types, Cataract 16 multiple types |
| RS387907339 | Health Risk | Pathogenic | Myofibrillar myopathy 2, Myofibrillar myopathy 2 |