InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRYBA4

Summary

InnateDB Protein

IDBP-3260.5

Last Modified

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

Gene Symbol

CRYBA4

Protein Name

crystallin, beta A4

Synonyms

CTRCT23; MCOPCT4;

Species

Homo sapiens

Ensembl Protein

ENSP00000346805

InnateDB Gene

IDBG-3258 (CRYBA4)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Disease Associations

Cataract 23 (CTRCT23) [MIM:610425]: 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. CTRCT23 is a zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. {ECO:0000269PubMed:16960806}. 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 2 experimentally validated interaction(s) in this database.