FDXR Antibody

1. These data provide further insight into the pathogenic mechanism of FDXR-mediated central neuropathy, and suggest an avenue for mechanistic studies that will ultimately inform treatment. PMID: 30250212
2. we identified a novel disease-causing gene FDXR associated with mitochondrial diseases. The biallelic FDXR mutations cause optic atrophy and neuropathy. we found that FDXR levels are significantly lower in the patient fibroblast cells with the homozygous mutations R392W. Fourteen missense or nonsense FDXR mutations were identified in this study and eight of them (I143F, V158M, T211A, I213F, K280*, R315*, C359Y, D374N) clu PMID: 29040572
3. Using surface plasmon resonance, physiologically relevant concentrations of isatin (25-100 muM) were found to increase affinity of interactions between human recombinant ferrochelatase (FECH) and NADPH-dependent adrenodoxin reductase (ADR). PMID: 28905435
4. Mutation in FDXR gene is associated with Sensorial Neuropathies. PMID: 28965846
5. NOS-3 overexpression resulted in an increased sensitivity to anti-Fas induced cell death, independently of AR expression and CatD activity. PMID: 25712867
6. These results indicated that abundant FDXR expression in these steroidogenic cells was maintained through SF-1 binding to the intronic enhancer of the FDXR gene PMID: 24321386
7. results suggest that both FDX1 and FDX2 and their likely reductase partner, FDXR, contribute to iron-sulfur cluster biogenesis PMID: 22101253
8. comparison of catalytic properties between conditions of limiting and saturating adrenodoxin reductase [cytochrome P450scc] PMID: 12137805
9. The ferredoxin reductase gene is regulated by the p53 family and sensitizes cells to oxidative stress-induced apoptosis PMID: 12370809
10. ADXR rate of hydroxylation was linear with incubation time. PMID: 12782149

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HGNC: 3642

OMIM: 103270

KEGG: hsa:2232

STRING: 9606.ENSP00000462972

UniGene: Hs.69745