Gene: CRYAB

Alternate names for this Gene: CMD1II|CRYA2|CTPP2|CTRCT16|HEL-S-101|HSPB5|MFM2

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.1

Description of this Gene: crystallin alpha B

Type of Gene: protein-coding

rs104894201 in CRYAB gene and Alpha-B Crystallinopathy PMID 21920752 2012 A novel CRYAB mutation resulting in multisystemic disease.

PMID 12601044 2003 Alteration of protein-protein interactions of congenital cataract crystallin mutants.

PMID 14681890 2003 Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

PMID 9731540 1998 A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.

rs1114167341 in CRYAB gene and CARDIOMYOPATHY, DILATED, 1II PMID 26627873 2016 Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

PMID 28493373 2017 The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.

PMID 21920752 2012 A novel CRYAB mutation resulting in multisystemic disease.

PMID 23194663 2013 Mutants of human αB-crystallin cause enhanced protein aggregation and apoptosis in mammalian cells: influence of co-expression of HspB1.

PMID 16483541 2006 Alpha B-crystallin mutation in dilated cardiomyopathy.

PMID 16793013 2006 alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands.

PMID 27226619 2016 The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.

PMID 21130652 2011 Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.

rs144451841 in CRYAB gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.