PEX7 Antibody

1. 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. PMID: 28013369
2. 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 PMID: 26138649
3. Mutation in the PEX7 Gene is associated with Rhizomelic Chondrodysplasia Punctata Type 1. PMID: 25800479
4. 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. PMID: 25538232
5. dysfunctional Pex7p, including mutants from RCDP patients, is degraded by a ubiquitin-dependent proteasomal pathway involving the CRL4A (Cullin4A-RING ubiquitin ligase) complex. PMID: 24989250
6. Export of peroxisomal PEX7 back into the cytosol requires export of PEX5. PMID: 24865970
7. This results of this studt revealed the association of 2 single nucleotide polymorphisms and 1 haplotype with autism spectrum disorder (P < .05). PMID: 22378669
8. Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7. PMID: 22057399
9. Mutations in PEX7 gene is associated with Rhizomelic chondrodysplasia punctata. PMID: 20145307
10. mutational spectrum in the PEX7 gene of 78 patients (including five pairs of sibs) clinically and biochemically diagnosed with RCDP type I PMID: 11781871
11. Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins. PMID: 11931631
12. 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. PMID: 12325024
13. 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. PMID: 12522768
14. Identification of PEX7 as the second gene involved in Refsum disease. PMID: 14713215
15. Missense mutations, sequence duplications and deletions in PRX7 in 3 patients with the Refsum disease phenotypes. PMID: 14974078

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HGNC: 8860

OMIM: 215100

KEGG: hsa:5191

STRING: 9606.ENSP00000315680

UniGene: Hs.280932