Entrez gene ID | | 1428 |
Official gene symbol | | CRYM |
Full name | | crystallin, mu |
Aliases | | ,DFNA40,THBP, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 16 Locus: 16p13.11-p12.3 |
Gene position | | 21314404 - 21269839 Map Viewer |
Gene orientation | | minus |
Gene size | | 44566 bp |
Gene sequence |
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OMIM ID | | 123740 |
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