Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome

Nat Genet. 1992 Apr;1(1):16-23. doi: 10.1038/ng0492-16.


The peroxisomal membrane protein, with a relative molecular mass of 70,000 (M(r) 70K) (PMP70), is an important component of peroxisomal membranes and an ATP-binding cassette protein. To investigate its possible involvement in Zellweger syndrome (ZS), an inborn error of peroxisome assembly, we cloned and sequenced cDNAs for human PMP70 and mapped the gene to chromosome 1. Amongst 32 probands with ZS or related disorders, we found two mutant PMP70 alleles in single ZS probands from the same complementation group. One allele has a donor splice site mutation and the second a missense mutation. Our results suggest that PMP70 plays an important role in peroxisome biogenesis and that mutations in PMP70 may be responsible for a subset of ZS patients.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • ATP-Binding Cassette Transporters*
  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Mapping
  • Cloning, Molecular
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Microbodies / metabolism*
  • Molecular Sequence Data
  • Pedigree
  • Zellweger Syndrome / genetics*
  • Zellweger Syndrome / metabolism


  • ABCD3 protein, human
  • ATP-Binding Cassette Transporters
  • Membrane Proteins
  • DNA

Associated data

  • GENBANK/M81182