Aliases for CRYM Gene
External Ids for CRYM Gene
Previous GeneCards Identifiers for CRYM Gene
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]
GeneCards Summary for CRYM Gene
CRYM (Crystallin, Mu) is a Protein Coding gene. Diseases associated with CRYM include dfna40 nonsyndromic hearing loss and deafness and deafness, autosomal dominant 40. Among its related pathways are Metabolism and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include protein homodimerization activity and NADP binding.
UniProtKB/Swiss-Prot for CRYM Gene
Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors.