Entrez gene ID | | 4948 |
Official gene symbol | | OCA2 |
Full name | | oculocutaneous albinism II |
Aliases | | ,BEY,BEY1,BEY2,BOCA,D15S12,EYCL,EYCL2,EYCL3,HCL3,P,PED,SHEP1, |
Gene summary | | 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] |
Location | | Chromosome: 15 Locus: 15q11.2-q12 |
Gene position | | 28344458 - 28000021 Map Viewer |
Gene orientation | | minus |
Gene size | | 344438 bp |
Gene sequence |
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OMIM ID | | 611409 |
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