Aliases for TYR Gene
External Ids for TYR Gene
The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
GeneCards Summary for TYR Gene
TYR (Tyrosinase) is a Protein Coding gene. Diseases associated with TYR include oculocutaneous albinism and minimal pigment oculocutaneous albinism type 1. Among its related pathways are Metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include protein homodimerization activity and copper ion binding. An important paralog of this gene is DCT.
UniProtKB/Swiss-Prot for TYR Gene
This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone