OCA2

Also known as BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3

protein-coding gene in the species Homo sapiens

Gene data

OCA2

Name: OCA2 melanosomal transmembrane protein
Type: protein-coding
Aliases: BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P

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].

via MyGene.info