Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1995-02

AUTHORS

Gabriele Dodt, Nancy Braverman, Candice Wong, Ann Moser, Hugo W. Moser, Paul Watkins, David Valle, Stephen J. Gould

ABSTRACT

The peroxisome biogenesis disorders (PBDs) are lethal recessive diseases caused by defects in peroxisome assembly. We have isolated PXR1, a human homologue of the yeast P. pastoris PAS8 (peroxisome assembly) gene. PXR1, like PAS8, encodes a receptor for proteins with the type–1 peroxisomal targeting signal (PTS1). Mutations in PXR1 define complementation group 2 of PBDs and expression of PXR1 rescues the PTS1 import defect of fibroblasts from these patients. Based on the observation that PXR1 exists both in the cytosol and in association with peroxisomes, we propose that PXR1 protein recognizes PTS1 –containing proteins in the cytosol and directs them to the peroxisome. More... »

PAGES

115-125

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0295-115

DOI

http://dx.doi.org/10.1038/ng0295-115

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1028344814

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7719337


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