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Article

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

The EMBO journal - 17 Jun 1996

Yahraus T, Braverman N, Dodt G, Kalish J E, Morrell J C, Moser H W, Valle D, Gould S J

Abstract excerpt

In humans, defects in peroxisome assembly result in the peroxisome biogenesis disorders (PBDs), a group of genetically heterogeneous, lethal recessive diseases. We have identified the human gene PXAAA1 based upon its similarity to PpPAS5, a gene required for peroxisome assembly in the yeast Pichia pastoris. Expression of PXAAA1 restored peroxisomal protein import in fibroblasts from 16 unrelated members of...

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Identifiers

PMID: 8670792
PMCID: PMC450231

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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.

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The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.PMID 8670792Read ↗

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.Semantic proximity Read ↗

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Proteasome-dependent protein quality control of the peroxisomal membrane protein Pxa1p.Semantic proximity Read ↗

The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders.Semantic proximity Read ↗

Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.Semantic proximity Read ↗

A temperature-sensitive CHO pex1 mutant with a novel mutation in the AAA Walker A1 motif.Semantic proximity Read ↗

PEX1 <sup>G843D</sup> remains functional in peroxisome biogenesis but is rapidly degraded by the proteasomeSemantic proximity Read ↗

The pas8 mutant of Pichia pastoris exhibits the peroxisomal protein import deficiencies of Zellweger syndrome cells--the PAS8 protein binds to the COOH-terminal tripeptide peroxisomal targeting signal, and is a member of the TPR protein family.Semantic proximity Read ↗

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.Semantic proximity Read ↗

Peroxisome targeting signal type 1 (PTS1) receptor is involved in import of both PTS1 and PTS2: studies with PEX5-defective CHO cell mutants.Semantic proximity Read ↗

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