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CYB5R3 Antibody

  • 货号：
    CSB-PA006320GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P00387
  • 基因名：
  • 别名：
    B5R antibody; Cyb5r3 antibody; Cytochrome b5 reductase 3 antibody; Cytochrome b5 reductase antibody; DIA1 antibody; Diaphorase 1 antibody; Diaphorase-1 antibody; NADH cytochrome b5 reductase 3 antibody; NADH-cytochrome b5 reductase 3 membrane-bound form antibody; NADH-cytochrome b5 reductase 3 soluble form antibody; NB5R3_HUMAN antibody; OTTHUMP00000028761 antibody; OTTHUMP00000198435 antibody; OTTHUMP00000198574 antibody; OTTHUMP00000198662 antibody; OTTHUMP00000198665 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human CYB5R3
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Methemoglobinemia CYB5R3-related (METHB-CYB5R3)
  • 亚细胞定位：
    [Isoform 1]: Endoplasmic reticulum membrane; Lipid-anchor; Cytoplasmic side. Mitochondrion outer membrane; Lipid-anchor; Cytoplasmic side.; [Isoform 2]: Cytoplasm. Note=Produces the soluble form found in erythrocytes.
  • 蛋白家族：
    Flavoprotein pyridine nucleotide cytochrome reductase family
  • 组织特异性：
    Isoform 2 is expressed at late stages of erythroid maturation.
  • 数据库链接：

    HGNC: 2873

    OMIM: 250800

    KEGG: hsa:1727

    STRING: 9606.ENSP00000354468

    UniGene: Hs.561064