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  4. Recombinant Human Cob (I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial (MMAB)

Recombinant Human Cob (I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial (MMAB)

  • 中文名称：
    人MMAB重组蛋白
  • 货号：
    CSB-YP853413HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人MMAB重组蛋白
  • 货号：
    CSB-EP853413HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人MMAB重组蛋白
  • 货号：
    CSB-EP853413HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    人MMAB重组蛋白
  • 货号：
    CSB-BP853413HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人MMAB重组蛋白
  • 货号：
    CSB-MP853413HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    MMAB
  • Uniprot No.：
    Q96EY8
  • 别名：
    aquocob(I)alamin vitamin B12s adenosyltransferase; ATP:cob(I)alamin adenosyltransferase ; ATP:corrinoid adenosyltransferase; ATR ; c-diamide adenosyltransferase; cblB; Cob; Cob(I)alamin adenosyltransferase; Cob(I)yrinic acid a; cob(I)yrinic acid a c diamide adenosyltransferase mitochondrial; Methylmalonic aciduria (cobalamin deficiency) cblB type; Methylmalonic aciduria type B protein; MGC20496; mitochondrial; MMAB; MMAB gene; MMAB_HUMAN; OTTHUMP00000240563; OTTHUMP00000240564
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    33-250
  • 氨基酸序列
    QSRGPQGV EDGDRPQPSS KTPRIPKIYT KTGDKGFSST FTGERRPKDD QVFEAVGTTD ELSSAIGFAL ELVTEKGHTF AEELQKIQCT LQDVGSALAT PCSSAREAHL KYTTFKAGPI LELEQWIDKY TSQLPPLTAF ILPSGGKISS ALHFCRAVCR RAERRVVPLV QMGETDANVA KFLNRLSDYL FTLARYAAMK EGNQEKIYMK NDPSAESEGL
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

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MMAB antibodies

靶点详情

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Methylmalonic aciduria type cblB (MMAB)
  • 亚细胞定位：
    Mitochondrion.
  • 蛋白家族：
    Cob(I)alamin adenosyltransferase family
  • 组织特异性：
    Expressed in liver and skeletal muscle.
  • 数据库链接：

    HGNC: 19331

    OMIM: 251110

    KEGG: hsa:326625

    STRING: 9606.ENSP00000445920

    UniGene: Hs.12106

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