基因名称(Gene Name)
CRYGC CRYG3
免疫原
Synthesized peptide derived from human CRGC AA range: 45-95
特异性
This antibody detects endogenous levels of CRGC at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
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],
功能
disease:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract.,disease:Defects in CRYGC are a cause of autosomal dominant cataract [MIM:604219]. Cataract is an opacification of the eye lens that frequently results in visual impairment or blindness during infancy and early childhood.,disease:Defects in CRYGC are a cause of Coppock-like cataract (CCL) [MIM:604307]. The Coppock cataract refers to a congenital pulverulent disk-like opacity involving the embryonal and fetal nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited.,disease:Defects in CRYGC are the cause of variable zonular pulverulent cataract [MIM:123680].,domain:Has a two-domain beta-structure, folded i
