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References

These sources were used to develop the Genetics Home Reference gene summary on the PEX1 gene.

Crane DI, Maxwell MA, Paton BC. PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. Hum Mutat. 2005 Sep;26(3):167-75. Review. PubMed citation
Entrez Gene
Fujiki Y, Miyata N, Matsumoto N, Tamura S. Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p involved in shuttling of the PTS1 receptor Pex5p in peroxisome biogenesis. Biochem Soc Trans. 2008 Feb;36(Pt 1):109-13. doi: 10.1042/BST0360109. Review. PubMed citation
Gene Review: Zellweger Syndrome Spectrum
OMIM: PEROXISOME BIOGENESIS FACTOR 1
Rosenkranz K, Birschmann I, Grunau S, Girzalsky W, Kunau WH, Erdmann R. Functional association of the AAA complex and the peroxisomal importomer. FEBS J. 2006 Aug;273(16):3804-15. PubMed citation
Rosewich H, Ohlenbusch A, Gärtner J. Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. J Med Genet. 2005 Sep;42(9):e58. PubMed citation
Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim Biophys Acta. 2006 Dec;1763(12):1733-48. Epub 2006 Sep 14. Review. PubMed citation
Thoms S, Erdmann R. Peroxisomal matrix protein receptor ubiquitination and recycling. Biochim Biophys Acta. 2006 Dec;1763(12):1620-8. Epub 2006 Sep 3. Review. PubMed citation
Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107-33. Review. PubMed citation

Reviewed: April 2010

Published: May 20, 2013