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OCA2, OCA2 melanosomal transmembrane protein
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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]
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Gene Synonyms (BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1, P protein, P-protein, eye color 2 (central brown), eye color 3 (brown), hair color 3 (brown), melanocyte-specific transporter protein, oculocutaneous albinism II (pink-eye dilution homolog, mouse), pink-eyed dilution protein homolog, total brown iris pigmentation,)
- NCBI Gene ID:
4948
- Species:
Homo sapiens (Human)
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UNIPROT ID#>>Q04671
- View the NCBI Database
for this Gene »
Gene products are often involved in multiple pathways and networks within a living
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OCA2 melanosomal transmembrane protein interacts with:
Paste a protein or nucleic acid sequence in the box below to confirm that it matches
this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see
how a sequence matches to an experimentally-validated ORF clone.
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