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  4. Recombinant Human Methylmalonic aciduria type A protein, mitochondrial (MMAA)

Recombinant Human Methylmalonic aciduria type A protein, mitochondrial (MMAA)

  • 中文名称：
    人MMAA重组蛋白
  • 货号：
    CSB-YP811606HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人MMAA重组蛋白
  • 货号：
    CSB-EP811606HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人MMAA重组蛋白
  • 货号：
    CSB-EP811606HU-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MMAA重组蛋白
  • 货号：
    CSB-BP811606HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人MMAA重组蛋白
  • 货号：
    CSB-MP811606HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    MMAA
  • Uniprot No.：
    Q8IVH4
  • 别名：
    MMAAMethylmalonic aciduria type A protein; mitochondrial; EC 3.6.-.-
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    66-418
  • 氨基酸序列
    CVQTT LKDHTEGLSD KEQRFVDKLY TGLIQGQRAC LAEAITLVES THSRKKELAQ VLLQKVLLYH REQEQSNKGK PLAFRVGLSG PPGAGKSTFI EYFGKMLTER GHKLSVLAVD PSSCTSGGSL LGDKTRMTEL SRDMNAYIRP SPTRGTLGGV TRTTNEAILL CEGAGYDIIL IETVGVGQSE FAVADMVDMF VLLLPPAGGD ELQGIKRGII EMADLVAVTK SDGDLIVPAR RIQAEYVSAL KLLRKRSQVW KPKVIRISAR SGEGISEMWD KMKDFQDLML ASGELTAKRR KQQKVWMWNL IQESVLEHFR THPTVREQIP LLEQKVLIGA LSPGLAADFL LKAFKSRD
  • 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

靶点详情

  • 功能：
    GTPase, binds and hydrolyzes GTP. Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MMUT). Plays a dual role as both a protectase and a reactivase for MMUT. Protects MMUT from progressive inactivation by oxidation by decreasing the rate of the formation of the oxidized inactive cofactor hydroxocobalamin (OH2Cbl). Additionally acts a reactivase by promoting the replacement of OH2Cbl by the active cofactor AdoCbl, restoring the activity of MMUT in the presence and hydrolysis of GTP.
  • 基因功能参考文献：
    1. localization of hMMAA and its colocalization with hMCM in human PMID: 28943303
    2. A novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic academia was identified. The deletion in exon 4 of the MMAA gene (c.674 delA) is a pathogenic allele via a nucleotide frame shift resulting in a stop codon and termination of protein synthesis 38 nucleotides (12 amino acids) downstream of the deletion. PMID: 28536607
    3. Ten novel mutational MMAA variants have been identified in patients with methylmalonic aciduria. PMID: 23026888
    4. MMAA acts as a chaperone of human MCM protein. PMID: 21138732
    5. Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. PMID: 20876572
    6. A candidate gene for mutations (deletion, insertion, stop-codon, missense)in cblA patient cells was identified as MMAA on chromosome 4q31.1-2. It encodes a predicted protein of 418 AA. PMID: 12438653
    7. The 503delC mutation is prevalent in Japanese patients with methylmalonic acidemia. PMID: 15308131
    8. DNA from 37 cblA patients was analyzed for deleterious mutations in the MMAA gene by DNA sequencing of exons and flanking sequences PMID: 15523652
    9. Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB. PMID: 17597648
    10. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. PMID: 17957493
    11. Spondylocostal dysostosis associated with MMAA is presented in a young boy. PMID: 19371216

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  • 相关疾病：
    Methylmalonic aciduria type cblA (MMAA)
  • 亚细胞定位：
    Mitochondrion. Cytoplasm.
  • 蛋白家族：
    SIMIBI class G3E GTPase family, ArgK/MeaB subfamily
  • 组织特异性：
    Widely expressed. Highest expression is observed in liver and skeletal muscle.
  • 数据库链接：

    HGNC: 18871

    OMIM: 251100

    KEGG: hsa:166785

    STRING: 9606.ENSP00000281317

    UniGene: Hs.452864

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