OCA2

OCA2 encodes the P protein, a melanosomal membrane transporter that regulates the pH of melanosomes and is required for normal synthesis and processing of melanin in melanocytes. A well-studied regulatory variant, rs12913832, lies in an intron of the neighboring HERC2 gene but controls OCA2 transcription; it is the single largest known determinant of blue versus brown eye color and also influences hair and skin pigmentation. Severe loss-of-function mutations in OCA2 cause oculocutaneous albinism type 2.