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CRYAB crystallin, alpha B [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001885 Homo sapiens crystallin, alpha B (CRYAB), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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Gene Symbol CRYAB
Entrez Gene ID 1410
Full Name crystallin, alpha B
Synonyms CRYA2, CTPP2, HSPB5
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q22.3-q23.1

Summary 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. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. [provided by RefSeq, Jul 2008].
Disorder

MIM: 123590

Myopathy, cardioskeletal, desmin-related, with cataract, 608810 (3);

mRNA Protein Product Sequence Price Select
NM_001885, 4503056 NP_001876, 4503057 alpha-crystallin B chain ORF Sequence $159.00
KEGG
hsa04141Protein processing in endoplasmic reticulum
Homo sapiens (human)CRYABNP_001876.1
Pan troglodytes (chimpanzee)CRYABXP_508752.2
Macaca mulatta (Rhesus monkey)CRYABXP_002799809.1
Canis lupus familiaris (dog)CRYABXP_862258.2
Bos taurus (cattle)CRYABNP_776715.1
Mus musculus (house mouse)CryabNP_034094.1
Rattus norvegicus (Norway rat)CryabNP_037067.1
Gallus gallus (chicken)CRYABNP_990507.1
Danio rerio (zebrafish)cryabaNP_571232.1
Drosophila melanogaster (fruit fly)l(2)eflNP_523827.1
GeneCards CRYAB
PDB 3SGN, 2WJ7, 3SGR, 2Y22, 2Y1Z, 2KLR, 3SGM, 3SGP, 3SGS, 3L1G, 2Y1Y, 2YGD, 3SGO
UniProt P02511
MIM 123590
Ensembl ENSG00000109846
HGNC 2389
HPRD 00428

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
alpha-crystallin B chain
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

Interactant



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