InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRYGC

Summary

InnateDB Protein

IDBP-79697.4

Last Modified

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

Gene Symbol

CRYGC

Protein Name

crystallin, gamma C

Synonyms

CCL; CRYG3; CTRCT2;

Species

Homo sapiens

Ensembl Protein

ENSP00000282141

InnateDB Gene

IDBG-79695 (CRYGC)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Disease Associations

Cataract 2, multiple types (CTRCT2) [MIM:604307]: 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. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. {ECO:0000269PubMed:10521291, ECO:0000269PubMed:10914683, ECO:0000269PubMed:12011157, ECO:0000269PubMed:22052681, ECO:0000269PubMed:22876111}. 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 15 experimentally validated interaction(s) in this database.