TYR, Official Symbol TYRprovided by HGNC Official Full Name tyrosinaseprovided by HGNC Primary source HGNC:HGNC:12442 See related Ensembl:ENSG00000077498 MIM:606933; AllianceGenome:HGNC:12442 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3 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] Expression Restricted expression toward skin (RPKM 11.8) See more Orthologs mouse all