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Article

Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.

Nature genetics - 1 Dec 1997

Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau W H, Dodt G

Abstract excerpt

Human peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal-recessive disease caused by mutations in PEX genes that encode peroxins, proteins required for peroxisome biogenesis. These lethal diseases include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum's disease (IRD), three phenotypes now thought to represent a continuum of clinical...

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Source

Identifiers

PMID: 9398848
DOI: 10.1038/ng1297-449

Genes

PEX1

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

Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.PMID 9398848Read ↗

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.Semantic proximity Read ↗

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.Semantic proximity Read ↗

Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.Semantic proximity Read ↗

Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.Semantic proximity Read ↗

Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.Semantic proximity Read ↗

PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.Semantic proximity Read ↗

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

The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.Semantic proximity Read ↗

Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.Semantic proximity Read ↗

Peroxisome biogenesis and molecular defects in peroxisome assembly disorders.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 ↗

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.Semantic proximity Read ↗

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