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Browse result for oculocutaneous albinism

※ introduction

    Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.:?864? Oculocutaneous albinism is also found in non-human animals.

Reference
Wiki: oculocutaneous albinism



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD06208Q046714948
OCA2
P protein
Homo sapiens