Gene Symbol | TYR |
Entrez Gene ID | 7299 |
Full Name | tyrosinase |
Synonyms | ATN,CMM8,OCA1,OCA1A,OCAIA,SHEP3 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Albinism, oculocutaneous, type IA, 203100 (3); Waardenburg syndrome/albinism, digenic, 103470 (3); Albinism, oculocutaneous, type IB, 606952 (3); [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3); {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3); [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3) |