CRYGC

This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015]

Description

Crystallin gamma C

Tissue specificity

Tissue enriched (testis)

Subcell location

Vesicles, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

2 (208128137 - 208129828)

Ensembl ID

ENSG00000163254  (ver. 103.38)

Orthologs

Mouse Crygc: ENSMUSG00000025952

UniProt

P07315

neXtProt

NX_P07315

Human splice variants
Mouse splice variants

Protein structure