CRYBB3

GENE INFORMATION

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Gene name

CRYBB3 (HGNC Symbol)

Synonyms

CRYB3

Description

Crystallin, beta B3 (HGNC Symbol)

Entrez gene 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. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]

Chromosome

22

Cytoband

q11.23

Chromosome location (bp)

25595817 - 25603330

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000100053 (version 75.37)

Entrez gene

1417

UniProt

P26998 (UniProt - Evidence at protein level)

neXtProt

NX_P26998

Antibodypedia

CRYBB3 antibodies
 

PROTEIN VIEW

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CRYBB3-001
 
CRYBB3-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CRYBB3-001 ENSP00000215855
ENST00000215855
P26998
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Show » Show » 211 24.3 No 0
CRYBB3-002 ENSP00000386123
ENST00000404334
B1AHR5
Show all »
Show » 113 12.5 No 0