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PEX6 encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. Zusätzlich bieten wir Ihnen PEX6 Antikörper (71) und PEX6 Proteine (5) und viele weitere Produktgruppen zu diesem Protein an.
Overexpression models confirmed that the overrepresentation of the pathogenic PEX6 c.2578T variant compared to wild-type PEX6 c.2578C results in a peroxisome biogenesis defect and thus constitutes the cause of disease in the affected individuals.
PEX6 identified as the 6p21 SCABD gene in a family with spinocerebellar ataxia with blindness and deafness.
Heimler syndrome is due to four novel and two known missense variants and an 8 bp deletion in PEX6 in five families.
the current study revealed novel expression quantitative trait loci (eQTLs) for SNHG5 and PEX6 genes in chromosome 6. Nucleotide substitutions of the eQTLs might be candidate factors for a variety of cancers by regulating expression of the 2 genes.
As standard biochemical screening of blood for evidence of a peroxisomal disorder did not provide a diagnosis in the individuals with Heimler syndrome, patients with sensorineural hearing lossand retinal pigmentation should have mutation analysis of PEX1 (zeige PEX1 ELISA Kits) and PEX6 genes.
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 (zeige 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 (zeige PEX14 ELISA Kits) from Pex26p
increased incidence of Zellweger syndrome (zeige PEX1 ELISA Kits) in French-Canadians of Lac (zeige LCT ELISA Kits)-St-Jean region caused by a PEX6 founder mutation
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