The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis.
The 70 kDa peroxisomal membrane protein (PMP70) is a major component of peroxisomal membranes. cDNAs for human and rat PMP70 have been cloned and sequenced and the gene mapped to human chromosome 1p21-22. The predicted amino acid sequence showed homology to members of the ATP-binding cassette transporter family. In humans, mutations in the PMP70 gene have been found in a subset of patients with Zellweger syndrome, a lethal inborn error of peroxisome biogenesis. These results suggest that PMP70 functions in transporting molecules or possibly peptides across the peroxisomal membrane and has an important role in peroxisome assembly.
Gärtner
J
J
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21205.
Valle
D
D
D018528:ATP-Binding Cassette Transporters; D000255:Adenosine Triphosphate / Q000378:metabolism*; D000595:Amino Acid Sequence; D000818:Animals; D002352:Carrier Proteins / Q000378:metabolism*; D006801:Humans; D008099:Liver / Q000378:metabolism / Q000648:ultrastructure; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D008830:Microbodies / Q000378:metabolism* / Q000648:ultrastructure; D008967:Molecular Biology; D008969:Molecular Sequence Data; D051381:Rats; D015211:Zellweger Syndrome / Q000235:genetics
C063305:ABCD3 protein, human; D018528:ATP-Binding Cassette Transporters; C489272:Abcd3 protein, rat; D002352:Carrier Proteins; D008565:Membrane Proteins; D000255:Adenosine Triphosphate