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 Deafness, Autosomal Dominant 40 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and lysine degradation II (pipecolate pathway). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and NADP binding.
UniProtKB/Swiss-Prot Summary 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.