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Article

Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.

Human molecular genetics - 1 Sept 1998

Okumoto K, Itoh R, Shimozawa N, Suzuki Y, Tamura S, Kondo N, Fujiki Y

Abstract excerpt

Peroxisome biogenesis disorders (PBD), such as Zellweger syndrome, are autosomal recessive diseases caused by a deficiency in peroxisome assembly as well as a malfunction of the peroxisomes, where at least 10 genotypes have been reported. We have isolated a human PEX10 cDNA (HsPEX10) by an expressed sequence tag homology search on a human DNA database using yeast PEX10 from Hansenula polymorpha, followed by...

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Source

Identifiers

PMID: 9700193
DOI: 10.1093/hmg/7.9.1399

Genes

PEX10

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.PMID 9700193Read ↗

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

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

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

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

Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.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 ↗

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

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

Peroxisome Biogenesis Disorders.Semantic proximity Read ↗

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.Semantic proximity Read ↗

A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders.Semantic proximity Read ↗

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

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