TYR catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The protein has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this protein result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation.
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Protein Aliases: LB24-AB; Monophenol monooxygenase; oculocutaneous albinism IA; SK29-AB; Tumor rejection antigen AB; TYR; Tyrosinase
Gene Aliases: ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3; TYR
UniProt ID: (Human) P14679
Entrez Gene ID: (Human) 7299