Name

OCA2 Gene

oculocutaneous albinism II

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 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term oca2 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

OCA2 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for OCA2 from the Pathway Commons Protein-Protein Interactions dataset.