形式 |
This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6.
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復(fù)溶 |
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. Ebberink MS, et al. Hum Mutat, 2010 Jan. PMID 19877282.Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family. Mkaouar-Rebai E, et al. Pediatr Neurol, 2009 Jun. PMID 19433277.Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. Yik WY, et al. Hum Mutat, 2009 Mar. PMID 19105186.Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p. Tamura S, et al. J Biol Chem, 2006 Sep 22. PMID 16854980.Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.
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儲存溶液 |
Peroxisome assembly factor 2, PAF-2, Peroxin-6, Peroxisomal biogenesis factor 6, Peroxisomal-type ATPase 1, PEX6, PXAAA1
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