Tyrosinase (TYR) Antibody – Mouse Monoclonal

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]

TYR: 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. Increased expression after UVB irradiation. Belongs to the tyrosinase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Amino Acid Metabolism - tyrosine; Membrane protein, integral; Oxidoreductase; Cofactor and Vitamin Metabolism - riboflavin; EC 1.14.18.1

Chromosomal Location of Human Ortholog: 11q14.3

Cellular Component: cytoplasm; Golgi-associated vesicle; lysosome; melanosome; melanosome membrane; perinuclear region of cytoplasm

Molecular Function: copper ion binding; monooxygenase activity; monophenol monooxygenase activity; protein binding; protein heterodimerization activity; protein homodimerization activity

Biological Process: eye pigment biosynthetic process; melanin biosynthetic process; melanin biosynthetic process from tyrosine; visual perception

Disease: Albinism, Ocular, With Sensorineural Deafness; Albinism, Oculocutaneous, Type Ia; Albinism, Oculocutaneous, Type Ib; Skin/hair/eye Pigmentation, Variation In, 3