Gene: CRYAA

Alternate names for this Gene: CRYA1|CTRCT9|HSPB4

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. 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).

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: crystallin alpha A

Type of Gene: protein-coding

Gene: LOC107987300

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs121912973 in CRYAA;LOC107987300 gene and CATARACT, AUTOSOMAL DOMINANT PMID 17724170 2007 Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

PMID 10684623 2000 Mutation of R116C results in highly oligomerized alpha A-crystallin with modified structure and defective chaperone-like function.

PMID 11123904 2000 Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts.

PMID 9467006 1998 Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.

PMID 14512969 2003 Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.

PMID 22045060 2012 Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin.

PMID 22216983 2012 Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in αA-crystallin gene.

PMID 16453125 2006 Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.

PMID 23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

PMID 22140512 2011 Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.

PMID 17296897 2007 New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.

PMID 18302245 2008 Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).

PMID 20079887 2010 Effects of congenital cataract mutation R116H on alphaA-crystallin structure, function and stability.

PMID 18085469 2007 Differential binding of mutant (R116C) and wildtype alphaA crystallin to actin.

PMID 18407550 2008 A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.

PMID 16735993 2006 A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.

PMID 19503744 2009 An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.

PMID 22347476 2012 Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin.

rs397515625 in CRYAA;LOC107987300 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.