CRYM

Official Full Name

crystallin, mu

Background

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.

Synonyms

CRYM; crystallin, mu; thiomorpholine-carboxylate dehydrogenase; DFNA40; CRYM_HUMAN; Crystallin mu; DFNA 40; Ketimine reductase; Mu crystallin homolog; Mu-crystallin homolog; NADP regulated thyroid hormone binding protein; NADP-regulated thyroid-hormone-binding protein; OTTHUMP00000115878; THBP; Thiomorpholine carboxylate dehydrogenase; NADP-regulated thyroid-hormone binding protein