CRYM gene

crystallin mu

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal dominant 40

From UniProt:

Deafness, autosomal dominant, 40 (DFNA40): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:616357]

Cytogenetic Location: 16p12.2, which is the short (p) arm of chromosome 16 at position 12.2

Molecular Location: base pairs 21,258,518 to 21,303,136 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p12.2, which is the short (p) arm of chromosome 16 at position 12.2
  • DFNA40
  • THBP