TYR

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]

tyrosinase (oculocutaneous albinism IA)

This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine (By similarity).
In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone (PubMed:28661582).

Biological Process cell population proliferation Source:Ensembl
Biological Process eye pigment biosynthetic process Source:ProtInc1 Publication
Biological Process melanin biosynthetic process Source:CACAO1 Publication
Biological Process melanin biosynthetic process from tyrosine Source:ProtInc1 Publication
Biological Process pigmentation Source:GO_Central1 Publication
Biological Process response to blue light Source:UniProtKB1 Publication
Biological Process response to cAMP Source:Ensembl
Biological Process response to UV Source:Ensembl
Biological Process response to vitamin D Source:Ensembl
Biological Process thymus development Source:Ensembl
Biological Process visual perception Source:ProtInc1 Publication

Melanosome membrane
Melanosome
Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38.

Albinism, oculocutaneous, 1A (OCA1A):
An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.
Albinism, oculocutaneous, 1B (OCA1B):
An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C.

Lumenal: 19-476
Helical: 477-497
Cytoplasmic: 498-529

Glycosylated.