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MT000152

Record overview

MITO ID	MT000152
Gene ID	1410
Species	Homo sapiens (Human)
Gene Name	crystallin, alpha B
Gene Symbol	CRYAB
Synonyms	MFM2; CRYA2; CTPP2; HSPB5; CMD1II; CTRCT16; HEL-S-101;
Alternate names	alpha-crystallin B chain; heat shock protein beta-5; rosenthal fiber component; heat-shock 20 kD like-protein; renal carcinoma antigen NY-REN-27; epididymis secretory protein Li 101;
Chromosome	11
Map Location	11q22.3-q23.1
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. 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 2014]
Orthologs	View orthologs and multiple alignments for CRYAB

Proteins

alpha-crystallin B chain

Refseq ID:	NP_001876
Protein GI:	4503057
UniProt ID:	P02511
mRNA ID:	NM_001885
Length:	175
RefSeq Status:

alpha-crystallin B chain
`MDIAIHHPWIRRPFFPFHSPSRLFDQFFGEHLLESDLFPTSTSLSPFYLRPPSFLRAPSWFDTGLSEMRLEKDRFSVNLDVKHFSPEELKVKVLGDVIEV HGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSDGVLTVNGPRKQVSGPERTIPITREEKPAVTAAPKK`

Refseq ID:	NP_001276737
Protein GI:	577019573
UniProt ID:	P02511
mRNA ID:	NM_001289808
Length:	175
RefSeq Status:

alpha-crystallin B chain
Protein sequence is identical to GI:4503057 (mRNA isoform)

Refseq ID:	NP_001276736
Protein GI:	577019571
UniProt ID:	P02511
mRNA ID:	NM_001289807
Length:	175
RefSeq Status:

Protein sequence is identical to GI:4503057 (mRNA isoform)