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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 PEX6 Proteins (5) and many more products for this protein.
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 (show PEX1 ELISA Kits)-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 ELISA Kits) from Pex26p
increased incidence of Zellweger syndrome (show PEX1 ELISA Kits) in French-Canadians of Lac (show LCT ELISA Kits)-St-Jean region caused by a PEX6 founder mutation
hybrid exercise increases expression of eukaryotic translation initiation factor 5A (show EIF5A ELISA Kits) (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 (show PEX1 ELISA Kits) 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