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PEX6 encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. Additionally we are shipping PEX6 Antibodies (51) and many more products for this protein.
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PEX6 is expressed in photoreceptor cilia and mutated in deafblindness with enamel dysplasia and microcephaly.
Our structural data suggest that the tilting of a central segment of a Pex1-Pex6 pair is responsible for polypeptide movement.
Mutations in PEX6 gene is associated with Heimler Syndrome.
results suggested that peroxisome biogenesis requires Pex1p- and Pex6p-regulated dissociation of Pex14p (show PEX14 Proteins) from Pex26p
increased incidence of Zellweger syndrome in French-Canadians of Lac (show LCT Proteins)-St-Jean region caused by a PEX6 founder mutation
hybrid exercise increases expression of eukaryotic translation initiation factor 5A (show EIF5A Proteins) (EIFSA), peroxisomal biogenesis factor 6 (PEX6) and histone cluster 1 H4 (HIST1H4), compared with electrical stimulation alone
We identified a total of 77 different mutations in Zellweger syndrome patients of which 47 mutations have not been reported previously, and 14 polymorphic variants.
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents
the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX6 gene.
Leigh syndrome presenting the T8993G mutation in the ATPase 6 gene with variable heteroplasmic loads (44-98%) in a single Tunisian family is a novel finding.
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.
peroxisome assembly factor 2
, peroxisomal biogenesis factor 6
, peroxisome biogenesis factor 6
, peroxisomal AAA-type ATPase 1
, peroxisomal-type ATPase 1