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

doi:10.1086/302161

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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 per...

Topics

Amino Acid Sequence
Animals
CHO Cells
Cloning, Molecular
Cricetinae
DNA Mutational Analysis
Expressed Sequence Tags
Fibroblasts
Fungal Proteins
Gene Library
Genetic Complementation Test
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Immunohistochemistry

Liver

Membrane Proteins

Microbodies

Molecular Sequence Data

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 30 Aug 2026. Prepared record publication-9837814-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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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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