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Gene : CRYM Homo sapiens

Name  ? crystallin mu Cytological Location  16p12.2
Brief Description  crystallin mu
Description  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. [provided by RefSeq, Sep 2014]
  • synonyms:
  • THBP,
  • uc002dim.4,
  • NM_001376256,
  • thiomorpholine-carboxylate dehydrogenase,
  • HGNC:2418,
  • CRYM,
  • DFNA40,
  • DFNA40,
  • OTTHUMG00000090707,
  • crystallin, mu
  • identifiers:
  • 1428,
  • ENSG00000103316,
  • CRYM

Genome feature

Region: gene ? Length: 44542  
Location: 16:21258521-21303062 reverse strand Cyto location: 16p12.2


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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Expression

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810 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results