Human Molecular Genetics, Vol 6, 1925-1931, Copyright © 1997 by Oxford University Press
N Shani, G Jimenez-Sanchez, G Steel, M Dean and D Valle
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 chromosome 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.
ARTICLES
Identification of a fourth half ABC transporter in the human peroxisomal membrane
Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
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