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MTHFD1L Antibody

  • 货号：
    CSB-PA015154GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q6UB35
  • 基因名：
    MTHFD1L
  • 别名：
    10-formyl-THF synthetase antibody; C1TM_HUMAN antibody; Formyltetrahydrofolate synthetase antibody; formyltetrahydrofolate synthetase domain containing 1 antibody; FTHFSDC1 antibody; methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like antibody; mitochondrial antibody; Monofunctional C1-tetrahydrofolate synthase antibody; MTC1THFS antibody; MTHFD1L antibody; RP1-292B18.2 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human MTHFD1L
  • 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：
    May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2.
  • 基因功能参考文献：
    1. MTHFD1L protein and RNA expression levels were significantly upregulated in esophageal squamous cell carcinoma tissue as compared with normal tissue. High expression of MTHFD1 was also detected in two esophageal cancer cell lines (TE-1 and EC109). PMID: 29171320
    2. study identifies MTHFD1L in the folate cycle as an important metabolic pathway in cancer cells with the potential for therapeutic targeting PMID: 28394261
    3. Studies reported that the A allele of a polymorphism in a gene involved in folate metabolism, MTHFD1L, showed a genome-wide significant association with late-onset Alzheimer's Disease. PMID: 26926881
    4. rs6922269 variant at MTHFD1L gene could be an important prognostic factor for cardiovascular mortality in patients after ACS. PMID: 25809277
    5. MTHFD1L rs6922269 genotype is associated with active vitamin B12 levels at baseline and may be a marker of prognostic risk in patients with established coronary heart disease. PMID: 24618918
    6. Results indicate that miR-9 and MiR-197 specifically downregulate MTHFD1L in HEK293 and MCF-7 cells and that SNPrs7646 affects miR-197 binding to the MTHFD1L 3' UTR causing gene repression in the presence of the allele associated with neural tube defects. PMID: 24123340
    7. The rs3832406 polymorphism was associated with isolated cleft lip with or without cleft palate.(MTHFD1L) PMID: 22520921
    8. This study support a role of MTHFD1L gene in late-onset Alzheimer's disease in a Northern Han Chinese population. PMID: 22330827
    9. No evidence of association between the MTHFD1L marker and susceptibility to Alzheimer's disease is found in a sample from a Spanish population. PMID: 21383495
    10. Prevalence of minor allele A (adenosine) in rs11754661 single nucleotide polymorphism of MTHFD1L contributes to the risk of Alzheimer's disease in a Han population of mainland China. PMID: 21741665
    11. mitochondrial C1-tetrahydrofolate synthase gene structure and tissue distribution PMID: 12937168
    12. association of rs6922269 with coronary heart disease not replicated in Tunisian sample PMID: 19373437
    13. Two of the three alleles of rs3832406 are functionally different and influence the splicing efficiency of the alternate MTHFD1L mRNA transcripts. PMID: 19777576
    14. Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain at the early second trimester may indicate abnormal folate metabolism and may reflect folate deficiency. PMID: 15068241
    15. Gene encodes the mitochondrial isozyme of C1-tetrahydrofolate (THF) synthase, a monofunctional enzyme containing formyl-THF synthetase activity. PMID: 16171773

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  • 亚细胞定位：
    Mitochondrion.
  • 蛋白家族：
    Tetrahydrofolate dehydrogenase/cyclohydrolase family; Formate--tetrahydrofolate ligase family
  • 组织特异性：
    Detected in most tissues, highest expression found in placenta, thymus and brain. Low expression is found in liver and skeletal muscle. Up-regulated in colon adenocarcinoma.
  • 数据库链接：

    HGNC: 21055

    OMIM: 611427

    KEGG: hsa:25902

    STRING: 9606.ENSP00000356290

    UniGene: Hs.591343