MMAB Antibody
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中文名稱：MMAB兔多克隆抗體
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貨號：CSB-PA014648GA01HU
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規格：￥3,900
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其他：
產品詳情
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Uniprot No.：
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基因名：MMAB
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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
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宿主：Rabbit
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反應種屬：Human,Mouse
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免疫原：Human MMAB
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity Purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產品提供形式：Liquid
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應用范圍：ELISA,WB,IHC
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
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靶點詳情
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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.
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基因功能參考文獻：
- analysis of how molecular chaperones interact with ATR in methylmalonic aciduria cblB type PMID: 29197662
- MMAB might be a target and potential biomarker of hepatotoxicity in EFV-induced liver toxicity PMID: 29190729
- 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
- MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort. PMID: 23707710
- 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
- c.584G>A, c.349-1G>C, and c.290G>A mutations affect the splicing process of ATR. PMID: 20556797
- Observational study of gene-disease association. (HuGE Navigator) PMID: 20877624
- Observational study of gene-disease association. (HuGE Navigator) PMID: 20972250
- Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) PMID: 20571754
- These data suggest MMAB is the most likely gene influencing high-density lipoprotein-cholesterol levels at MMAB-MVK locus. PMID: 20159775
- Observational study of gene-disease association. (HuGE Navigator) PMID: 20430392
- Observational study of gene-disease association. (HuGE Navigator) PMID: 20160193
- 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
- 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
- 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
- Mutations in methylmalonic aciduria type B protein is associated with methylmalonic acidemia PMID: 17410422
- Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB. PMID: 17597648
- Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. PMID: 17957493
- 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
- 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
- Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 19605566
- Observational study of gene-disease association. (HuGE Navigator) PMID: 19487539
- Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 18193043
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相關疾?。?/div>Methylmalonic aciduria type cblB (MMAB)亞細胞定位：Mitochondrion.蛋白家族：Cob(I)alamin adenosyltransferase family組織特異性：Expressed in liver and skeletal muscle.數據庫鏈接：
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