OCA2

This gene encodes the human homologue of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Mutations in this gene result in type 2 oculocutaneous albinism. [provided by RefSeq]

oculocutaneous albinism II

Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color.

Cell population proliferationIEA:Ensembl
Eye pigment biosynthetic processManual Assertion Based On ExperimentTAS:ProtInc
Melanin biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central
Melanocyte differentiationManual Assertion Based On ExperimentIBA:GO_Central
Spermatid developmentIEA:Ensembl

Melanosome membrane

Albinism, oculocutaneous, 2 (OCA2):
An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides.

Cytoplasmic: 1-179
Helical: 180-197
Extracellular: 198-330
Helical: 331-347
Cytoplasmic: 348-353
Helical: 354-370
Extracellular: 371-384
Helical: 385-401
Cytoplasmic: 402-423
Helical: 424-440
Extracellular: 441-513
Helical: 514-530
Cytoplasmic: 531-620
Helical: 621-637
Extracellular: 638-647
Helical: 648-664
Cytoplasmic: 665-679
Helical: 680-696
Extracellular: 697-720
Helical: 721-737
Cytoplasmic: 738-760
Helical: 761-777
Extracellular: 778-817
Helical: 818-834
Cytoplasmic: 835-838