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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 Proteins (4) and many more products for this protein.
Showing 10 out of 50 products:
Human Polyclonal PEX1 Primary Antibody for WB - ABIN654140
Zhao, Li, Bradfield, Zhang, Mentch, Wang, Sleiman, Kim, Glessner, Hou, Keating, Thomas, Garris, Deliard, Frackelton, Otieno, Chiavacci, Berkowitz, Hakonarson, Grant: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. in BMC medical genetics 2010
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Chicken Monoclonal PEX1 Primary Antibody for IF, WB - ABIN968642
Collins, Gould: Identification of a common PEX1 mutation in Zellweger syndrome. in Human mutation 1999
Show all 3 references for 968642
Mouse (Murine) Polyclonal PEX1 Primary Antibody for ELISA, WB - ABIN4344955
Yik, Steinberg, Moser, Moser, Hacia: Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. in Human mutation 2009
Human Polyclonal PEX1 Primary Antibody for EIA, WB - ABIN954094
Tamura, Yasutake, Matsumoto, Fujiki: Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p. in The Journal of biological chemistry 2006
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 Antibodies) genes.
Our structural data suggest that the tilting of a central segment of a Pex1-Pex6 (show PEX6 Antibodies) 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 Antibodies) from Pex26p
the variants in PEX (show PHEX Antibodies) genes of a family
A 5' UTR (show UTS2R Antibodies) 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 Antibodies) 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