Symbol: Name: ID: |
TYR tyrosinase (oculocutaneous albinism IA) GFS:2238 |
Gene name: | TYR |
Chromosome: | 11q14-q21 |
Previous Symbols: | |
Previous Names: | |
Aliases: | OCAIA |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:98880 | Rat Genome Database ID: | RGD:1589755 |
HGNC ID: | HGNC:12442 | RefSeq IDs: | NM_000372 |
Entrez Gene ID: | 7299 | Ensembl Gene ID: | ENSG00000077498 |
VEGA IDs: | UniProt ID: | P14679 | |
UCSC ID: | uc001pcs.2 | OMIM ID: | 606933 |
Pubmed: | |||
CCDS IDs: | CCDSCCDS8284.1 |
Tyrosinase also known as monophenol monooxygenase is an enzyme that catalyses the oxidation of phenols (such as tyrosine) and is widespread in plants and animals.
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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: 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.
Products for TYR gene
Catalog | Product Name | Application | Company |
GFS:E02238 | tyrosinase (oculocutaneous albinism IA); ELISA kit | ELISA | n/a |
GFS:A02238 | tyrosinase (oculocutaneous albinism IA); Anti | ANTIBODIES | n/a |
GFS:P02238 | tyrosinase (oculocutaneous albinism IA); Protien | Protien | n/a |