title: Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.
abstract: The peroxisome biogenesis disorders (PBDs) are lethal recessive diseases caused by defects in peroxisome assembly. We have isolated PXR1, a human homologue of the yeast P. pastoris PAS8 (peroxisome assembly) gene. PXR1, like PAS8, encodes a receptor for proteins with the type-1 peroxisomal targeting signal (PTS1). Mutations in PXR1 define complementation group 2 of PBDs and expression of PXR1 rescues the PTS1 import defect of fibroblasts from these patients. Based on the observation that PXR1 exists both in the cytosol and in association with peroxisomes, we propose that PXR1 protein recognizes PTS1-containing proteins in the cytosol and directs them to the peroxisome.
authors.affiliation: Kennedy Krieger Research Institute, Department of Cell Biology and Anatomy, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
authors.forename: G
authors.initials: G
authors.lastname: Dodt
authors.forename: N
authors.initials: N
authors.lastname: Braverman
authors.forename: C
authors.initials: C
authors.lastname: Wong
authors.forename: A
authors.initials: A
authors.lastname: Moser
authors.forename: H W
authors.initials: HW
authors.lastname: Moser
authors.forename: P
authors.initials: P
authors.lastname: Watkins
authors.forename: D
authors.initials: D
authors.lastname: Valle
authors.forename: S J
authors.initials: SJ
authors.lastname: Gould
mesh_terms: D000595:Amino Acid Sequence; D002352:Carrier Proteins / Q000235:genetics; D003600:Cytosol / Q000502:physiology; D005800:Genes, Fungal; D005816:Genetic Complementation Test; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008659:Metabolic Diseases / Q000235:genetics*; D008830:Microbodies / Q000378:metabolism* / Q000502:physiology; D008969:Molecular Sequence Data; D009154:Mutation; D000074435:Peroxisome-Targeting Signal 1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*; D018160:Receptors, Cytoplasmic and Nuclear; D012441:Saccharomyces cerevisiae / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid; D015398:Signal Transduction; D015003:Yeasts / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; C000614264:PEX5 protein, human; D000074435:Peroxisome-Targeting Signal 1 Receptor; D011956:Receptors, Cell Surface; D018160:Receptors, Cytoplasmic and Nuclear; C085380:peroxisomal targeting sequence receptor