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Article

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.

Human mutation - 1 Jun 2004

Shimozawa Nobuyuki, Tsukamoto Toshiro, Nagase Tomoko, Takemoto Yasuhiko, Koyama Naoki, Suzuki Yasuyuki, Komori Masayuki, Osumi Takashi, Jeannette Gootjes, Wanders Ronald J A, Kondo Naomi

Abstract excerpt

Peroxisome biogenesis disorders (PBD) are lethal hereditary diseases caused by abnormalities in the biogenesis of peroxisomes. At present, 12 different complementation groups have been identified and to date, all genes responsible for each of these complementation groups have been identified. The peroxisomal membrane protein PEX14 is a key component of the peroxisomal import machinery and may be the initial...

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Source

Identifiers

PMID: 15146459
DOI: 10.1002/humu.20032

Genes

PEX14
PEX5
PEX7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.PMID 15146459Read ↗

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

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

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

Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.Semantic proximity Read ↗

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

Identification of a novel PEX14 mutation in Zellweger syndrome.Semantic proximity Read ↗

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

PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.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 ↗

Saccharomyces cerevisiae PTS1 receptor Pex5p interacts with the SH3 domain of the peroxisomal membrane protein Pex13p in an unconventional, non-PXXP-related manner.Semantic proximity Read ↗

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.Semantic proximity Read ↗

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.Semantic proximity Read ↗

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