title: Identification of a fourth half ABC transporter in the human peroxisomal membrane.
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 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.
authors.affiliation: Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: N
authors.initials: N
authors.lastname: Shani
authors.forename: G
authors.initials: G
authors.lastname: Jimenez-Sanchez
authors.forename: G
authors.initials: G
authors.lastname: Steel
authors.forename: M
authors.initials: M
authors.lastname: Dean
authors.forename: D
authors.initials: D
authors.lastname: Valle
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D000595:Amino Acid Sequence; D000818:Animals; D002460:Cell Line; D002462:Cell Membrane / Q000378:metabolism; D002883:Chromosomes, Human, Pair 14; D003001:Cloning, Molecular; D018076:DNA, Complementary; D015870:Gene Expression; D006801:Humans; D015151:Immunoblotting; D008565:Membrane Proteins; D008830:Microbodies / Q000378:metabolism*; D008969:Molecular Sequence Data; D013347:Subcellular Fractions
chemical_list: C063305:ABCD3 protein, human; C489273:ABCD4 protein, human; D018528:ATP-Binding Cassette Transporters; D018076:DNA, Complementary; D008565:Membrane Proteins