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CRYAA

crystallin, alpha A

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. 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 (sHSP also known as the 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. 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, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.


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TRANSCRIPTS LIST

5'/3'UTRs Partially Coding Exons Coding Exons Introns


Promoter 3'UTR

NM_000394; ENST00000291554.2

Gene: NM:NM_000394; ENST00000291554.2 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 INTRON 1 INTRON 2
Promoter 3'UTR

ENST00000482775.1

Gene: NM:ENST00000482775.1 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 INTRON 1 INTRON 2 INTRON 3
Promoter 3'UTR

ENST00000398133.1

Gene: NM:ENST00000398133.1 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 INTRON 1 INTRON 2
Promoter 3'UTR

ENST00000398132.1

Gene: NM:ENST00000398132.1 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 INTRON 1 INTRON 2
Promoter 3'UTR

ENST00000468016.1

Gene: NM:ENST00000468016.1 EXON 1 EXON 1 EXON 2 EXON 2 INTRON 1





Updated on June 12, 2013