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anti-Mouse (Murine) PEX7 Antibodies:
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Human Polyclonal PEX7 Primary Antibody for WB - ABIN4238026
Salcher, Hagenbuchner, Geiger, Seiter, Rainer, Kofler, Hermann, Kiechl-Kohlendorfer, Ausserlechner, Obexer: C10ORF10/DEPP, a transcriptional target of FOXO3, regulates ROS-sensitivity in human neuroblastoma. in Molecular cancer 2014
siRNA knockdown of PEX7 reduced iNOS colocalization with the peroxisomal protein PMP70. Proteomic studies using MALDI-MS identified iNOS association with the 50-kD ezrin binding PDZ protein (EBP50).
Our data established that peroxisomal processing protease Tysnd1 is necessary to mediate the physiological functions of PTS2-containing substrates.
Mutations in the Pex7 gene cause impaired neuronal migration and endochondral ossification.
Data suggest that P7BP2 is localized to peroxisomes by binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type 2 peroxisomal targeting signal peptide) in N-terminal region of P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2 = PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5; PEX7 = peroxisomal biogenesis factor-7)
This revealed a marked plasmalogen deficiency and a deficient fatty acid alpha-oxidation in the IHH cells, due to a defect of PEX7, a cytosolic receptor protein required for peroxisomal import of a subset of peroxisomal proteins.
our data suggest that insertion of the trimeric PEX5-PEX7-PTS2 protein complex into the DTM is probably accompanied by conformational alterations in PEX5 to allow release of the PTS2 protein into the organelle matrix
Mutation in the PEX7 Gene is associated with Rhizomelic Chondrodysplasia Punctata Type 1.
the sequential formation of a highly stable trimeric complex involving cargo protein, PEX7 and PEX5L stabilizes cargo binding and is a prerequisite for PTS2-mediated peroxisomal import.
dysfunctional Pex7p, including mutants from RCDP patients, is degraded by a ubiquitin-dependent proteasomal pathway involving the CRL4A (Cullin4A-RING ubiquitin ligase) complex.
Export of peroxisomal PEX7 back into the cytosol requires export of PEX5.
This results of this studt revealed the association of 2 single nucleotide polymorphisms and 1 haplotype with autism spectrum disorder (P < .05).
Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.
Mutations in PEX7 gene is associated with Rhizomelic chondrodysplasia punctata.
mutational spectrum in the PEX7 gene of 78 patients (including five pairs of sibs) clinically and biochemically diagnosed with RCDP type I
Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins.
The residual activity of mutant Pex7 protein in rhizomelic chondrodysplasia punctata patients and reduced amounts of normal Pex7 are associated with milder and variant phenotypes.
This gene codes for the peroxin 7 receptor protein required for peroxisomal import of proteins containing a peroxisomal targeting signal type 2. Mutations may result in a broad clinical spectrum of Refsum disease.
Identification of PEX7 as the second gene involved in Refsum disease.
Missense mutations, sequence duplications and deletions in PRX7 in 3 patients with the Refsum disease phenotypes.
This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD).
peroxisomal biogenesis factor 7
, peroxin 7
, peroxisome targeting signal type 2 receptor
, peroxisomal targeting signal 2 receptor-like
, PTS2 receptor
, peroxisomal targeting signal 2 receptor
, peroxisome biogenesis factor 7
, peroxisomal PTS2 receptor
, peroxisome targeting signal 2 receptor