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Recombinant Human Glycine amidinotransferase, mitochondrial (GATM)

  • 中文名稱:
    人GATM重組蛋白
  • 貨號(hào):
    CSB-YP009284HU
  • 規(guī)格:
  • 來源:
    Yeast
  • 其他:
  • 中文名稱:
    人GATM重組蛋白
  • 貨號(hào):
    CSB-EP009284HU
  • 規(guī)格:
  • 來源:
    E.coli
  • 其他:
  • 中文名稱:
    人GATM重組蛋白
  • 貨號(hào):
    CSB-EP009284HU-B
  • 規(guī)格:
  • 來源:
    E.coli
  • 共軛:
    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:
  • 中文名稱:
    人GATM重組蛋白
  • 貨號(hào):
    CSB-BP009284HU
  • 規(guī)格:
  • 來源:
    Baculovirus
  • 其他:
  • 中文名稱:
    人GATM重組蛋白
  • 貨號(hào):
    CSB-MP009284HU
  • 規(guī)格:
  • 來源:
    Mammalian cell
  • 其他:

產(chǎn)品詳情

  • 純度:
    >85% (SDS-PAGE)
  • 基因名:
    GATM
  • Uniprot No.:
  • 別名:
    AGAT; AT; GATM; GATM_HUMAN; Glycine amidinotransferase; Glycine amidinotransferase, mitochondrial; L-arginine:glycine amidinotransferase; mitochondrial; Transamidinase
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度:
    Full Length of Mature Protein
  • 表達(dá)區(qū)域:
    38-423
  • 氨基酸序列
    STQ AATASSRNSC AADDKATEPL PKDCPVSSYN EWDPLEEVIV GRAENACVPP FTIEVKANTY EKYWPFYQKQ GGHYFPKDHL KKAVAEIEEM CNILKTEGVT VRRPDPIDWS LKYKTPDFES TGLYSAMPRD ILIVVGNEII EAPMAWRSRF FEYRAYRSII KDYFHRGAKW TTAPKPTMAD ELYNQDYPIH SVEDRHKLAA QGKFVTTEFE PCFDAADFIR AGRDIFAQRS QVTNYLGIEW MRRHLAPDYR VHIISFKDPN PMHIDATFNI IGPGIVLSNP DRPCHQIDLF KKAGWTIITP PTPIIPDDHP LWMSSKWLSM NVLMLDEKRV MVDANEVPIQ KMFEKLGITT IKVNIRNANS LGGGFHCWTC DVRRRGTLQS YLD
  • 蛋白標(biāo)簽:
    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.
  • 產(chǎn)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.
  • 復(fù)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.
  • 儲(chǔ)存條件:
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)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.
  • 貨期:
    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.
  • 注意事項(xiàng):
    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.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能:
    Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.
  • 基因功能參考文獻(xiàn):
    1. Measurements of creatine and guanidinoacetate in plasma are recommended for the diagnosis of AGAT and GAMT deficiency.Definitive confirmation of the diagnosis requires DNA sequencing of the appropriate gene and (if molecular analysis is ambiguous) measurement of AGAT or GAMT enzyme activity or of CRTR-mediated transport . PMID: 28055022
    2. Results show the functional characterization of rare missense variants in GATM which cause GATM deficiency. Seven of them report 0% of wild-type GATM activity indicating a putative pathogenicity. PMID: 27233232
    3. AGAT deficiency is a treatable intellectual disability. PMID: 26490222
    4. Meta-analysis yielded a marginal, but null, association of GATM rs9806699 with statin-induced myopathy. PMID: 25863251
    5. Genome-wide association reveals that plasma homoarginine is strongly associated with single nucleotide polymorphisms in the AGAT gene. PMID: 24004504
    6. promiscuous activity of AGAT, a key enzyme in creatine synthesis, plays a pivotal role in homoarginine synthesis PMID: 23010440
    7. GATM sequencing revealed a homozygous single nucleotide insertion 1111_1112insA, producing a frame-shift at Met-371 and premature termination at codon 376. PMID: 20682460
    8. AGAT mRNA expression was significantly elevated in all heart failure patients and returned to normal levels after recovery, suggesting a specific response to heart failure involving elevated local creatine synthesis. PMID: 16820567

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  • 相關(guān)疾?。?/div>
    Cerebral creatine deficiency syndrome 3 (CCDS3)
  • 亞細(xì)胞定位:
    [Isoform 1]: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Note=Probably attached to the outer side of the inner membrane.; [Isoform 2]: Cytoplasm.
  • 蛋白家族:
    Amidinotransferase family
  • 組織特異性:
    Expressed in brain, heart, kidney, liver, lung, salivary gland and skeletal muscle tissue, with the highest expression in kidney. Biallelically expressed in placenta and fetal tissues.
  • 數(shù)據(jù)庫(kù)鏈接:

    HGNC: 4175

    OMIM: 602360

    KEGG: hsa:2628

    STRING: 9606.ENSP00000379895

    UniGene: Hs.560354



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