Entrez gene ID | | 7299 |
Official gene symbol | | TYR |
Full name | | tyrosinase (oculocutaneous albinism IA) |
Aliases | | ,OCA1A,OCAIA,SHEP3, |
Gene 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] |
Location | | Chromosome: 11 Locus: 11q14-q21 |
Gene position | | 88911040 - 89028927 Map Viewer |
Gene orientation | | plus |
Gene size | | 117888 bp |
Gene sequence |
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OMIM ID | | 606933 |
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