NCBI Description of OCA2
|This gene encodes the human homologue 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 - a precursor of melanin. Mutations in this gene result in type 2 oculocutaneous albinism.|
Community Annotation of OCA2 Add / Edit OCA2: Annotations
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