Gene: TYR

Alternate names for this Gene: ATN|CMM8|OCA1|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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q14.3

Description of this Gene: tyrosinase

Type of Gene: protein-coding

rs10830253 in TYR gene and Cutaneous Melanoma PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs10830253 in TYR gene and Malignant melanoma of skin of lower limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs10830253 in TYR gene and Malignant melanoma of skin of upper limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.