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crym

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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; ketimine reductase; mu-crystallin homolog; NADP-regulated thyroid-hormone binding protein; THBP; zgc:158843; ketimine reductase mu-crystallin

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