Aliases for TYR Gene
External Ids for TYR Gene
Previous GeneCards Identifiers 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 Albinism, Oculocutaneous, Type Ia and Albinism, Oculocutaneous, Type Ib. Among its related pathways are (S)-reticuline biosynthesis and Phenylalanine metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is TYRP1.
UniProtKB/Swiss-Prot Summary 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 initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone.