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CRYM
crystallin, mu
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.
| Gene Name: | crystallin, mu |
| Synonyms: | CRYM, Crystallin, mu, Ketimine reductase, Mu-crystallin homolog, THBP, DFNA40 |
| Target Sequences: | NM_001888 NP_001879.1 |
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