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Article

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

Human mutation - 1 Jan 2010

Ebberink Merel S, Kofster Janet, Wanders Ronald J A, Waterham Hans R

Abstract excerpt

The autosomal recessive Zellweger syndrome spectrum (ZSS) disorders comprise a main subgroup of the peroxisome biogenesis disorders. The ZSS disorders can be caused by mutations in any of 12 different currently identified PEX genes resulting in severe, often lethal, multi-systemic disorders. Defects in the PEX6 gene are the second most common cause for ZSS disorders. The encoded protein PEX6 belongs to the AAA...

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Source

Identifiers

PMID: 19877282
DOI: 10.1002/humu.21153

Genes

PEX6

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.PMID 19877282Read ↗

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

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with 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 ↗

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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 ↗

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The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.Semantic proximity Read ↗

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.Semantic proximity Read ↗

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Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.Semantic proximity Read ↗

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

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