Article
Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online.
Human mutation - 1 Jan 1998
Oetting W S, Gardner J M, Fryer J P, Ching A, Durham-Pierre D, King R A, Brilliant M H
Abstract excerpt
Mutations in the human P gene lead to oculocutaneous albinism type 2 (OCA2, MIM #203200), the most common type of albinism in humans. The P gene encodes a 110 kDa protein that is associated with melonosomal membranes and contains 12 potential membrane spanning domains. The specific function of the P protein is currently unknown. We report 7 new mutations in the P gene associated with OCA2. This includes 6...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.