Gene Symbol | OCA2 |
Entrez Gene ID | 4948 |
Full Name | OCA2 melanosomal transmembrane protein |
Synonyms | BEY,BEY1,BEY2,BOCA,D15S12,EYCL,EYCL2,EYCL3,HCL3,P,PED,SHEP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the human homolog 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, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. |
Disorder MIM: | |
Disorder Html: | Albinism, oculocutaneous, type II, 203200 (3); Albinism, brown oculocutaneous, 203200 (3); [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3); [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) |