InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRYBB3

Summary

InnateDB Protein

IDBP-2976.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CRYBB3

Protein Name

crystallin, beta B3

Synonyms

CATCN2; CRYB3; CTRCT22;

Species

Homo sapiens

Ensembl Protein

ENSP00000215855

InnateDB Gene

IDBG-2974 (CRYBB3)

Protein Structure

UniProt Annotation

Function

Crystallins are the dominant structural components of the vertebrate eye lens.

Subcellular Localization

Disease Associations

Cataract 22 (CTRCT22) [MIM:609741]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. {ECO:0000269PubMed:15914629, ECO:0000269PubMed:23508780}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.