Article
Organization and sequence of the human P gene and identification of a new family of transport proteins.
Genomics - 20 Mar 1995
Lee S T, Nicholls R D, Jong M T, Fukai K, Spritz R A
Abstract excerpt
We have determined the structure, nucleotide sequence, and polymorphisms of the human P gene. Mutations of the P gene result in type II oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice. We find that the human P gene is quite large, consisting of 25 exons spanning 250 to 600 kb in chromosome segment 15q11-q13. The P polypeptide appears to define a novel family of small molecule...
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