Oculocutaneous Albinism (OCA)

Oculocutaneous Albinism, also known as albinism, oculocutaneous, is related to albinism, oculocutaneous, type ia and albinism, oculocutaneous, type vi. An important gene associated with Oculocutaneous Albinism is OCA2 (OCA2 Melanosomal Transmembrane Protein), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Prader-Willi and Angelman syndrome. The drugs Pirfenidone and Nitisinone have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are pigmentation and homeostasis/metabolism