CRYM
Function
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.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ornithine cyclodeaminase/mu-crystallin family.
Tissue Specificity
Expressed in neural tissue, muscle and kidney.
Cellular localization
- Cytoplasm
Alternative names
THBP, CRYM, Ketimine reductase mu-crystallin, NADP-regulated thyroid-hormone-binding protein