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Article

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

Nature genetics - 1 Dec 1997

Reuber B E, Germain-Lee E, Collins C S, Morrell J C, Ameritunga R, Moser H W, Valle D, Gould S J

Abstract excerpt

The peroxisome biogenesis disorders (PBDs) are a group of lethal autosomal-recessive diseases caused by defects in peroxisomal matrix protein import, with the concomitant loss of multiple peroxisomal enzyme activities. Ten complementation groups (CGs) have been identified for the PBDs, with CG1 accounting for 51% of all PBD patients. We identified the human orthologue of yeast PEX1, a gene required for...

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Source

Identifiers

PMID: 9398847
DOI: 10.1038/ng1297-445

Genes

PEX1
PEX5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.PMID 9398847Read ↗

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.Semantic proximity Read ↗

A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders.Semantic proximity Read ↗

PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.Semantic proximity Read ↗

Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.Semantic proximity Read ↗

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.Semantic proximity Read ↗

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.Semantic proximity Read ↗

Molecular basis of peroxisomal biogenesis disorders caused by defects in peroxisomal matrix protein import.Semantic proximity Read ↗

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.Semantic proximity Read ↗

The peroxisome biogenesis factors pex4p, pex22p, pex1p, and pex6p act in the terminal steps of peroxisomal matrix protein import.Semantic proximity Read ↗

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.Semantic proximity Read ↗

Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study.Semantic proximity Read ↗

First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes.Semantic proximity Read ↗

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