OCA2 Rabbit pAb

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. Synonyma: P, BEY, PED, BEY1, BEY2, BOCA, EYCL, HCL3, EYCL2, EYCL3, SHEP1, D15S12, OCA2