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

Jutta Gärtner, Hugo Moser, David Valle

Research output: Contribution to journalArticlepeer-review


The peroxisomal membrane protein, with a relative molecular mass of 70,000 (Mr 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.

Original languageEnglish (US)
Pages (from-to)16-23
Number of pages8
JournalNature genetics
Issue number1
StatePublished - Apr 1992

ASJC Scopus subject areas

  • Genetics

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