Oca2 - oculocutaneous albinism II

Acts upstream of or within several processes, including melanin biosynthetic process; melanocyte differentiation; and spermatid development. Predicted to be located in endoplasmic reticulum membrane; endosome membrane; and lysosomal membrane. Predicted to be active in melanosome membrane. Is expressed in brain and eye. Used to study oculocutaneous albinism. Human ortholog(s) of this gene implicated in actinic keratosis; oculocutaneous albinism type II; pigmentation disease; skin cancer (multiple); and squamous cell carcinoma. Orthologous to human OCA2 (OCA2 melanosomal transmembrane protein). [provided by Alliance of Genome Resources, Apr 2022]