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MMAB Antibody

  • 中文名稱：
    MMAB兔多克隆抗體
  • 貨號：
    CSB-PA014648GA01HU
  • 規(guī)格：
    ￥3,900
  • 其他：

產(chǎn)品詳情

  • Uniprot No.：
  • 基因名：
    MMAB
  • 別名：
    aquocob(I)alamin vitamin B12s adenosyltransferase antibody; ATP:cob(I)alamin adenosyltransferase antibody; ATP:corrinoid adenosyltransferase antibody; ATR antibody; c-diamide adenosyltransferase antibody; cblB antibody; Cob antibody; Cob(I)alamin adenosyltransferase antibody; Cob(I)yrinic acid a antibody; cob(I)yrinic acid a c diamide adenosyltransferase mitochondrial antibody; Methylmalonic aciduria (cobalamin deficiency) cblB type antibody; Methylmalonic aciduria type B protein antibody; MGC20496 antibody; mitochondrial antibody; MMAB antibody; MMAB gene antibody; MMAB_HUMAN antibody; OTTHUMP00000240563 antibody; OTTHUMP00000240564 antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human,Mouse
  • 免疫原：
    Human MMAB
  • 免疫原種屬：
    Homo sapiens (Human)
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen Affinity Purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA,WB,IHC
  • Protocols：
  • 儲存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.

產(chǎn)品評價

靶點詳情

  • 功能：
    Adenosyltransferase involved in intracellular vitamin B12 metabolism. Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer that is stimulated by ATP-binding to MMAB and gated by MMAA.
  • 基因功能參考文獻(xiàn)：
    1. analysis of how molecular chaperones interact with ATR in methylmalonic aciduria cblB type PMID: 29197662
    2. MMAB might be a target and potential biomarker of hepatotoxicity in EFV-induced liver toxicity PMID: 29190729
    3. These findings suggest that rs11066782 in KCTD10, rs11613718 in KCTD10 and rs11067233 in MMAB may contribute to the susceptibility of coronary heart disease by altering plasma HDL-C levels in Han Chinese. PMID: 27716295
    4. MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort. PMID: 23707710
    5. Pathogenicity of the human truncation mutant results from its inability to sequester AdoCbl for direct transfer to methylmalonyl-CoA mutase, resulting in holoenzyme formation. PMID: 21604717
    6. c.584G>A, c.349-1G>C, and c.290G>A mutations affect the splicing process of ATR. PMID: 20556797
    7. Observational study of gene-disease association. (HuGE Navigator) PMID: 20877624
    8. Observational study of gene-disease association. (HuGE Navigator) PMID: 20972250
    9. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) PMID: 20571754
    10. These data suggest MMAB is the most likely gene influencing high-density lipoprotein-cholesterol levels at MMAB-MVK locus. PMID: 20159775
    11. Observational study of gene-disease association. (HuGE Navigator) PMID: 20430392
    12. Observational study of gene-disease association. (HuGE Navigator) PMID: 20160193
    13. Characterization of ligand-binding by MMAB provides insight into the mechanism of cobalamin adenosylation and the effect of patient mutations in the inherited disorder PMID: 19625202
    14. report the identification of ATR cDNA as well as the corresponding gene; ATR expression is altered in cell lines derived from cblB methylmalonyl aciduria patients; propose that inborn errors in the ATR gene identified here result in methylmalonyl aciduria PMID: 12514191
    15. Results describe two common polymorphic variants of ATP:cob(I)alamin adenosyltransferase that are found in normal individuals, and their interactions with methionine synthase reductase. PMID: 15347655
    16. Mutations in methylmalonic aciduria type B protein is associated with methylmalonic acidemia PMID: 17410422
    17. Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB. PMID: 17597648
    18. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. PMID: 17957493
    19. Results functionally defined the hATR active site and tentatively implicated three amino acid residues in facilitating the reduction of cob(II)alamin to cob(I)alamin which is a prerequisite to adenosylation. PMID: 18251506
    20. homozygotes for the major allele (G) at MMAB_3U3527G-->C had higher LDL-cholesterol concentrations than did carriers of the minor allele (P = 0.034). PMID: 19605566
    21. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 19605566
    22. Observational study of gene-disease association. (HuGE Navigator) PMID: 19487539
    23. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 18193043

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  • 相關(guān)疾?。?/div>
    Methylmalonic aciduria type cblB (MMAB)
  • 亞細(xì)胞定位：
    Mitochondrion.
  • 蛋白家族：
    Cob(I)alamin adenosyltransferase family
  • 組織特異性：
    Expressed in liver and skeletal muscle.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 19331

    OMIM: 251110

    KEGG: hsa:326625

    STRING: 9606.ENSP00000445920

    UniGene: Hs.12106