CRYGC
Domain
Has a two-domain beta-structure, folded into four very similar Greek key motifs.
Function
Crystallins are the dominant structural components of the vertebrate eye lens.
Involvement in disease
Cataract 2, multiple types
CTRCT2
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the beta/gamma-crystallin family.
Alternative names
CRYG3, CRYGC, Gamma-crystallin C, Gamma-C-crystallin, Gamma-crystallin 2-1, Gamma-crystallin 3