Reactivities: | Human |
Presku: | AAP51981 |
Size: | 100ug |
Weight: | 34kDa |
Gene: | 1428 |
Format: | Lyophilized powder |
Target: | Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. Multiple alternatively spliced transcript variants have been found for this gene. |
Alternative names: | DFNA40; THBP |