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PEX1 encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. Additionally we are shipping PEX1 Antibodies (50) and PEX1 Proteins (4) and many more products for this protein.
A combination of a known missense and novel frameshift variant in PEX1 identified in a family with Heimler syndrome.
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 and PEX6 (show PEX6 ELISA Kits) genes.
Our structural data suggest that the tilting of a central segment of a Pex1-Pex6 (show PEX6 ELISA Kits) pair is responsible for polypeptide movement.
Mutations in PEX1 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
the variants in PEX (show PHEX ELISA Kits) genes of a family
A 5' UTR (show UTS2R ELISA Kits) polymorphism at position c.-53 and a promoter polymorphism 137 bp upstream of the PEX1 start codon are identified but strongly differing survival By genotype-phenotype analysis.
Missense mutations in PEX1 cause the milder forms of the peroxisome biogenesis disorders, whereas insertions, deletions, and nonsense mutations are associated with severe clinical phenotypes.
We have evaluated the impact of novel mutations, along with that of the two most common PEX1 mutations, in PBD patients by determining the levels of PEX1 mRNA, PEX1 protein, and peroxisome protein import.
complete lack of PEX1 is associated with Zellweger syndrome
pex1 is a novel nuclear effector of ET-1 (show EDN1 ELISA Kits) signaling and may be a regulator of the early stages of cardiac hypertrophy
crystal structure of pex1
This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome.
, peroxisome biogenesis disorder protein 1
, peroxisome biogenesis factor 1