Organization and sequence of the human P gene and identification of a new family of transport proteins.

Abstract

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 transporters and may be involved in transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. These results provide the basis for analyses of patients with OCA2 and may point toward eventual pharmacologic treatment of this and related disorders of pigmentation.

Statistics

0200400'98'00'02'04'06'08'10'12'14'16'18
Citations per Year

2,721 Citations

Semantic Scholar estimates that this publication has 2,721 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Lee1995OrganizationAS, title={Organization and sequence of the human P gene and identification of a new family of transport proteins.}, author={S T Lee and Robert D. Nicholls and Min Tze Jong and Kazuyoshi Fukai and Richard A. Spritz}, journal={Genomics}, year={1995}, volume={26 2}, pages={354-63} }