CRYGC gene

crystallin gamma C

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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

From NCBI Gene:

  • Cataract, coppock-like

From UniProt:

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. [MIM:604307]

Cytogenetic Location: 2q33.3, which is the long (q) arm of chromosome 2 at position 33.3

Molecular Location: base pairs 208,128,137 to 208,139,100 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q33.3, which is the long (q) arm of chromosome 2 at position 33.3
  • CCL
  • CRYG3
  • CTRCT2