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, Jul 2008]
Function:
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.
Subcellular Location:
Melanosome membrane.
DISEASE:
Defects in OCA2 are the cause of albinism oculocutaneous type 2 (OCA2) [MIM:20640]. 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.
Similarity:
Belongs to the CitM (TC 2.A.11) transporter family.
SWISS:
Q04671
Gene ID:
4948
Database links:
Entrez Gene: 488683 Dog
Entrez Gene: 100724327 Guinea pig
Entrez Gene: 100034107 Horse
Entrez Gene: 4948 Human
Entrez Gene: 18431 Mouse
Entrez Gene: 397171 Pig
Entrez Gene: 2926 Rat
Entrez Gene: 567419 Zebrafish
Omim: 611409 Human
SwissProt: Q04671 Human
SwissProt: Q62052 Mouse
SwissProt: Q8MIQ9 Pig
Unigene: 654411 Human
Unigene: 137052 Mouse
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