CPRiL

Protein Name	OCA2 melanosomal transmembrane protein
Organism	Homo sapiens
Gene ID	4948
Gene Symbol	OCA2
UniProt	Q04671 (P_HUMAN)
Relationships	Total Number of functionally related compound(s) : 83 Total Number of Articles : 99
Description	OCA2 melanosomal transmembrane protein
Gene 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]
synonyms	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 BEY BEY1 BEY2 BOCA D15S12 EYCL EYCL2 EYCL3 HCL3 P PED SHEP1 SLC13B1 Click to show/hide the synonyms
Properties