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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)
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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.
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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
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Mutation in the PEX7 Gene is associated with Rhizomelic Chondrodysplasia Punctata Type 1.
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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.
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dysfunctional Pex7p, including mutants from RCDP patients, is degraded by a ubiquitin-dependent proteasomal pathway involving the CRL4A (Cullin4A-RING ubiquitin ligase) complex.
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Export of peroxisomal PEX7 back into the cytosol requires export of PEX5.
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This results of this studt revealed the association of 2 single nucleotide polymorphisms and 1 haplotype with autism spectrum disorder (P < .05).
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Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.
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Mutations in PEX7 gene is associated with Rhizomelic chondrodysplasia punctata.
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mutational spectrum in the PEX7 gene of 78 patients (including five pairs of sibs) clinically and biochemically diagnosed with RCDP type I
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Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins.
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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.
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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.
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Identification of PEX7 as the second gene involved in Refsum disease.
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Missense mutations, sequence duplications and deletions in PRX7 in 3 patients with the Refsum disease phenotypes.