Tyrosinase (TYR) ELISA Kit for Hamster

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

Chromosomal Location of Human Ortholog: 11q14.3

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

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

Biological Process: cell proliferation; visual perception; thymus development; melanin biosynthetic process from tyrosine; eye pigment biosynthetic process

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