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Article

Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

American journal of human genetics - 1 Dec 1998

Honsho M, Tamura S, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y

Abstract excerpt

Peroxisome-biogenesis disorders (PBDs), including Zellweger syndrome (ZS), are autosomal recessive diseases caused by a deficiency in peroxisome assembly as well as by a malfunction of peroxisomes, among which>10 genotypes have been identified. We have isolated a human PEX16 cDNA (HsPEX16) by performing an expressed-sequence-tag homology search on a human DNA database, by using yeast PEX16 from Yarrowia...

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Source

Open in PubMed Open full text

Identifiers

PMID: 9837814
DOI: 10.1086/302161
PMCID: PMC1377633

Genes

PEX16
CGA

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

Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.PMID 9837814Read ↗

PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.Semantic proximity Read ↗

Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.Semantic proximity Read ↗

The membrane biogenesis peroxin Pex16p. Topogenesis and functional roles in peroxisomal membrane assembly.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 ↗

Peroxisome biogenesis and molecular defects in peroxisome assembly disorders.Semantic proximity Read ↗

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

A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.Semantic proximity Read ↗

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.Semantic proximity Read ↗

Peroxisome biogenesis disorders: molecular basis for impaired peroxisomal membrane assembly: in metabolic functions and biogenesis of peroxisomes in health and disease.Semantic proximity Read ↗

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

Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes.Semantic proximity Read ↗

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