OCA2 Summary

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]

OCA2 Details

Gene Symbol : OCA2

Gene Name : OCA2 melanosomal transmembrane protein

Chromosome : CHR 15: 280,993,41-277,190,07

Locus : 15q12-q13.1

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ATP8B4 Summary

This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

ATP8B4 Details

Gene Symbol : ATP8B4

Gene Name : ATPase phospholipid transporting 8B4 (putative)

Chromosome : CHR 15: 501,820,95-498,582,37

Locus : 15q21.2

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