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  4. Recombinant Human Guanidinoacetate N-methyltransferase (GAMT)

Recombinant Human Guanidinoacetate N-methyltransferase (GAMT)

  • 货号：
    CSB-YP009227HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP009227HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP009227HU-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：
  • 货号：
    CSB-BP009227HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP009227HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    GAMT
  • Uniprot No.：
  • 别名：
    CCDS2; Epididymis secretory protein Li 20; GAMT; GAMT_HUMAN; Guanidinoacetate N methyltransferase; Guanidinoacetate N-methyltransferase; HEL-S-20; PIG2; TP53I2
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-236
  • 氨基酸序列
    MSAPSATPIF APGENCSPAW GAAPAAYDAA DTHLRILGKP VMERWETPYM HALAAAASSK GGRVLEVGFG MAIAASKVQE APIDEHWIIE CNDGVFQRLR DWAPRQTHKV IPLKGLWEDV APTLPDGHFD GILYDTYPLS EETWHTHQFN FIKNHAFRLL KPGGVLTYCN LTSWGELMKS KYSDITIMFE ETQVPALLEA GFRRENIRTE VMALVPPADC RYYAFPQMIT PLVTKG
  • 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：
    Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor. Important in nervous system development.
  • 基因功能参考文献：
    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. Data suggest that creatine is provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvement of arginine glycine amidinotransferase [AGAT] and guanidinoacetate methyl transferase [GAMT]. [REVIEW] PMID: 26542286
    3. As early diagnosis results in normal neurodevelopmental outcome, GAMT deficiency should be included in newborn screening programs to diagnose individuals at the asymptomatic stage of the disease PMID: 26003046
    4. The estimated incidence of GAMT deficiency is 1:250,000 newborns based on our pilot study. PMID: 26319512
    5. Study reports six novel pathogenic mutations in GAMT gene in patients with Guanidinoacetate methyltransferase deficiency. PMID: 24415674
    6. Two novel heterozygous variants with sequence deletion and sequence insertion in the GAMT gene have been identified in newborns with guanidinoacetate methyltransferase deficiency. PMID: 23031365
    7. impact of creatine deficiency syndrome mutations, CRTR and GAMT on metabolic stress was analyzed in patient fibroblast cultures PMID: 21140503
    8. GAMT genes may not be directly involved in human male infertility PMID: 21190923
    9. Mutations in the GAMT gene are responsible for GAMT deficiency, since overexpression of the GAMT open reading frame restores GAMT activity in GAMT-deficient fibroblasts. PMID: 16899382
    10. compound heterozygous mutations in the GAMT gene may be causitive in guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy [case report] PMID: 17171576
    11. the carrier rate of the c.59G>C; p.Trp20Ser mutation in GAMT is relatively high in these islands, as well as in other parts of Portugal. PMID: 17336114
    12. Five novel mutations were identified in GAMT from 8 patients with GAMT deficiency. PMID: 19027335
    13. Body fluids from 10 GAMT deficient patients were analysed using (1)H NMR spectroscopy. PMID: 19288536

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  • 相关疾病：
    Cerebral creatine deficiency syndrome 2 (CCDS2)
  • 蛋白家族：
    Class I-like SAM-binding methyltransferase superfamily, RMT2 methyltransferase family
  • 组织特异性：
    Expressed in liver.
  • 数据库链接：

    HGNC: 4136

    OMIM: 601240

    KEGG: hsa:2593

    STRING: 9606.ENSP00000403536

    UniGene: Hs.81131