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CRYAB crystallin alpha B

Gene ID: 1410, updated on 22-Apr-2024
Gene type: protein coding
Also known as: MFM2; CRYA2; CTPP2; HSPB5; CMD1II; CTRCT16; HEL-S-101

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Cataract 16 multiple types
MedGen: C3808377OMIM: 613763GeneReviews: Not available
See labs
Dilated cardiomyopathy 1II
MedGen: C3554649OMIM: 615184GeneReviews: Not available
See labs
Fatal infantile hypertonic myofibrillar myopathy
MedGen: C5190691OMIM: 613869GeneReviews: Not available
See labs
Myofibrillar myopathy 2
MedGen: C1837317OMIM: 608810GeneReviews: Not available
See labs

Genomic context

Location:
11q23.1
Sequence:
Chromosome: 11; NC_000011.10 (111908564..111923740, complement)
Total number of exons:
6

Links

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