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

doi:10.1016/0888-7543(95)80220-g

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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...

Topics

Albinism, Oculocutaneous
Alleles
Amino Acid Sequence
Animals
Bacterial Proteins
Base Sequence
Carrier Proteins
Chromosome Mapping
Chromosomes, Human, Pair 15
Ethnicity
Exons
Genes
Genes, Recessive
Humans
Membrane Proteins
Membrane Transport Proteins
Mice
Molecular Sequence Data

Source

Open in PubMed

Identifiers

PMID: 7601462
DOI: 10.1016/0888-7543(95)80220-g

Genes

OCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7601462-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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