Identification of a fourth half ABC transporter in the human peroxisomal membrane

Noam Shani, Gerardo Jimenez-Sanchez, Gary Steel, Michael Dean, David Valle

Research output: Contribution to journalArticlepeer-review

Abstract

Three half ATP-binding cassette transporters (ALDP, ALDR, PMP70) are known to be present in the human peroxisome membrane. Mutations in the gene encoding ALDP cause X-linked adrenoleukodystrophy; the role of ALDR and PMP70 in human disease is unclear. We report the cloning and characterization of a fourth human gene encoding a peroxisomal half ABC transporter. The gene, designated P70R, maps to chromesome 14q24, encodes a 73 kDa transporter most similar to PMP70, and is expressed in all human tissues examined. Because half ABC transporters heterodimerize to form functional transporters, the identification of a fourth member of this family in the peroxisome membrane has implications for our understanding of mammalian peroxisomes and the genetic disorders of peroxisomal function.

Original languageEnglish (US)
Pages (from-to)1925-1931
Number of pages7
JournalHuman molecular genetics
Volume6
Issue number11
DOIs
StatePublished - Oct 1997

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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