OCA2

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Description:
P protein is a protein that in humans is encoded by the OCA2 gene.

OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Certain mutations in OCA2 result in type 2 oculocutaneous albinism.

Another mutation in the OCA2 is found common to nearly all people with blue eyes, and has been hypothesized that all blue eyed humans share a single common ancestor with whom the mutation originated.

A study has found the His615Arg allele of OCA2 is involved in the light skin tone in people of East Asian descent.

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