CYB5R3 Antibody

1. study indicated that novel homozygous mutation p.Arg192Cys in CYB5R3 gene present in eight cases and the possibility of high prevalence of heterozygous in Indian population causing Type I recessive congenital methemoglobinemia. PMID: 29482478
2. CYB5R3 promotes colonization and metastasis formation and is a prognostic marker of disease-free and overall survival in estrogen receptor-negative breast cancer. PMID: 26351264
3. Genetic variation in CYB5R3 is associated with methemoglobin levels in preterm infants receiving nitric oxide therapy. PMID: 25521918
4. The results unveil a potential mechanism of action by which CYB5R3 deficiency contributes to the pathophysiological underpinnings of neurological disorders in RHM patients. PMID: 24450884
5. NADH-CYB5R deficiency causes two forms of recessive congenital methemoglobinemia with cyanosis. PMID: 24266649
6. Dapsone-associated methemoglobinemia in a patient with slow NAT2*5B haplotype and impaired cytochrome b5 reductase activity PMID: 21422237
7. A comprehensive overview of the study of structure and function of human cytochrome b5 reductase. PMID: 23113554
8. Data indicate that mitochondrial amidoxime reducing components 1 and 2 together with the electron transport proteins NADH-cytochrome b5 reductase (CYB5R) and cytochrome b5 (CYB5) catalyze the reduction of N-hydroxylated compounds such as amidoximes. PMID: 23703616
9. Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia. PMID: 23866629
10. Novel large deletion c.22-1320_633+1224del in the CYB5R3 gene from patients with hereditary methemoglobinemia PMID: 23297489
11. CYB5R3 gene of three probands with type I methemoglobinemia and their relatives were sequenced revealing several putative causative mutations; in one subject multiple mutations were present PMID: 21349748
12. We conclude that Cytochrome b(5)and cytochrome b(5) reductase catalyze the reduction of arylhydroxylamines in breast tissue. PMID: 21447608
13. novel allelic mutation identified at codon 235 is in helix 5; first report of mental retardation because of the novel mutation, along with a second mutation in the NADH-b5R gene in an Indian family with recessive congenital methemoglobinemia Type II PMID: 21328435
14. Dia1 is localized to the perinuclear endoplasmic reticulum in an RNA-zipcode-independent manner in fibroblasts. PMID: 21266463
15. It was shown that Yakut patients have none of three missence mutations, Arg57Gln, Leu72Pro, and Val105Met, described in case of this disease in the neighboring populations, Chinese and Japanese, inhabiting the territories south of Yakutia PMID: 12884529
16. A decrease of the activity of membrane-bound NADH-methemoglobin reductase and a change of physical state of the lipid bilayer of membranes under oxidative stress were found in erythrocytes in vivo and in vitro. PMID: 15039026
17. Amino acid substitution results in congsenital methemoglobinemia. PMID: 15297856
18. crystal structure of cytochrome b(5) reductase PMID: 15502298
19. Recessive congenital methaemoglobinaemia observed in a Lebanese subject with a novel mutation in NADH-cytochrome b5 reductase gene. PMID: 15813912
20. A novel intronic mutation at 22163 caused markedly reduced mRNA (7% of normal) resulting in type II methemoglobinemia. PMID: 15921385
21. Dia1 is required for the formation of the actin coat around endosomes downstream of RhoB, connecting membrane trafficking with the regulation of actin dynamics. PMID: 15944396
22. DIA1 and IQGAP1 interact in cell migration and phagocytic cup formation. PMID: 17620407
23. report of the clinical and molecular characteristics of 6 new patients with recessive hereditary methemoglobinemia due to cytochrome b5 reductase deficiency; two new mutations of DIA1, c. 82 C>T(Gln27STOP) and c. 136 C>T(Arg45Trp), were found PMID: 18343696
24. The decline in the activities of G6PD and b5Rm would indicate a decrease in the antioxidant response associated with RBC aging. PMID: 19811411

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HGNC: 2873

OMIM: 250800

KEGG: hsa:1727

STRING: 9606.ENSP00000354468

UniGene: Hs.561064