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GAMT Antibody

  • 货号：
    CSB-PA009227GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q14353
  • 基因名：
    GAMT
  • 别名：
    CCDS2 antibody; Epididymis secretory protein Li 20 antibody; GAMT antibody; GAMT_HUMAN antibody; Guanidinoacetate N methyltransferase antibody; Guanidinoacetate N-methyltransferase antibody; HEL-S-20 antibody; PIG2 antibody; TP53I2 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat,Zebrafish
  • 免疫原：
    Human GAMT
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

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