CRYAA Chromosome 21
Crystallin alpha A
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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. Post-translational modifications decrease the ability to chaperone. 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. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
Small heat shock proteins
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000160202
Associated Conditions (10)
Developmental cataract
Cataract 9 multiple types
CRYAA-related disorder
Congenital portosystemic shunt
Cataract 9
autosomal recessive
multiple types
with microcornea
Inborn genetic diseases
Abnormality of the eye
Key Variants
RS1114167311
Conflicting classifications of pathogenicity
Developmental cataract, Cataract 9 multiple types, Developmental cataract
Health Risk
RS146914780
Conflicting classifications of pathogenicity
Cataract 9 multiple types, CRYAA-related disorder, Cataract 9 multiple types
Health Risk
RS74315441
Conflicting classifications of pathogenicity
Cataract 9 multiple types, Congenital portosystemic shunt, Cataract 9 multiple types
Health Risk
RS777728814
Conflicting classifications of pathogenicity
Cataract 9 multiple types, Cataract 9 multiple types
Health Risk
RS74315440
Likely pathogenic
Cataract 9, autosomal recessive, Cataract 9
Health Risk
RS864309685
Likely pathogenic
Developmental cataract, Developmental cataract
Health Risk
RS121912973
Pathogenic
Cataract 9, multiple types, with microcornea
Health Risk
RS397515623
Pathogenic
Cataract 9 multiple types, Developmental cataract, Cataract 9 multiple types
Health Risk
RS397515626
Pathogenic
Cataract 9 multiple types, Cataract 9 multiple types
Health Risk
RS398122947
Pathogenic
Cataract 9 multiple types, Cataract 9 multiple types
Health Risk
RS74315439
Pathogenic
Cataract 9 multiple types, Inborn genetic diseases, Cataract 9 multiple types
Health Risk
RS397515624
Pathogenic/Likely pathogenic
Cataract 9, multiple types, with microcornea
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1114167311 | Health Risk | Conflicting classifications of pathogenicity | Developmental cataract, Cataract 9 multiple types, Developmental cataract |
| RS146914780 | Health Risk | Conflicting classifications of pathogenicity | Cataract 9 multiple types, CRYAA-related disorder, Cataract 9 multiple types |
| RS74315441 | Health Risk | Conflicting classifications of pathogenicity | Cataract 9 multiple types, Congenital portosystemic shunt, Cataract 9 multiple types |
| RS777728814 | Health Risk | Conflicting classifications of pathogenicity | Cataract 9 multiple types, Cataract 9 multiple types |
| RS74315440 | Health Risk | Likely pathogenic | Cataract 9, autosomal recessive, Cataract 9 |
| RS864309685 | Health Risk | Likely pathogenic | Developmental cataract, Developmental cataract |
| RS121912973 | Health Risk | Pathogenic | Cataract 9, multiple types, with microcornea |
| RS397515623 | Health Risk | Pathogenic | Cataract 9 multiple types, Developmental cataract, Cataract 9 multiple types |
| RS397515626 | Health Risk | Pathogenic | Cataract 9 multiple types, Cataract 9 multiple types |
| RS398122947 | Health Risk | Pathogenic | Cataract 9 multiple types, Cataract 9 multiple types |
| RS74315439 | Health Risk | Pathogenic | Cataract 9 multiple types, Inborn genetic diseases, Cataract 9 multiple types |
| RS397515624 | Health Risk | Pathogenic/Likely pathogenic | Cataract 9, multiple types, with microcornea |
| RS397515625 | Health Risk | Pathogenic/Likely pathogenic | Cataract 9, multiple types, with microcornea |