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L2HGDH Antibody, FITC conjugated

  • 中文名稱：
    L2HGDH兔多克隆抗體, FITC偶聯(lián)
  • 貨號(hào)：
    CSB-PA864008LC01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) L2HGDH Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    L2HGDH
  • 別名：
    2 hydroxyglutarate dehydrogenase antibody; Alpha hydroxyglutarate oxidoreductase antibody; Alpha ketoglutarate reductase antibody; C14orf160 antibody; Duranin antibody; FLJ12618 antibody; L alpha hydroxyglutarate dehydrogenase antibody; L-2-hydroxyglutarate dehydrogenase antibody; L-2-hydroxyglutarate dehydrogenase, mitochondrial antibody; L2HDH_HUMAN antibody; l2hgdh antibody; mitochondrial antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human L-2-hydroxyglutarate dehydrogenase, mitochondrial protein (52-463AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標(biāo)記方式：
    FITC
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    >95%, Protein G purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 產(chǎn)品提供形式：
    Liquid
  • 儲(chǔ)存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 基因功能參考文獻(xiàn)：
    1. In this study, we describe a large pedigree from Pakistan showing multiple neurological symptoms. Homozygosity mapping and Sanger sequencing revealed a novel missense mutation in L2HGDH gene. PMID: 29458334
    2. The mutations of the L2HGDH gene as the causes of L-2-hydroxyglutaric aciduria. PMID: 29980873
    3. c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene is associated with 2-hydroxyglutaric aciduria in Chinese family. PMID: 26829733
    4. Intragenic single nucleotide length polymorphisms and two extragenic microsatellites flanking the L2HGDH gene confirm the founder effect of c.241A>G mutation in the 14 studied cases. PMID: 24573090
    5. modest increases in intracellular 2-HG in acute myeloid leukaemia cells, as seen with the rs11554137 SNP, might enhance chemoresistance, or promote acquisition of leukaemia-iniating mutations PMID: 24606602
    6. Report ten novel mutations in the L2HGDH gene in patients with L-2-hydroxyglutaric aciduria from different ethnic backgrounds. PMID: 18415700
    7. Report three unrelated Tunisian families containing seven patients with L2HGA mutations and inter-familial phenotype variability. PMID: 18780161
    8. L2HGDH mutation is not associated with glioblastoma. PMID: 21625441
    9. We did not find evidence for mutations in the genes D2HGDH and L2HGDH as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours PMID: 20727073
    10. Exonic mutations in the L2HGDH gene in Staffordshire bull terriers have been identified and associated with epilepsy. PMID: 20852250
    11. analysis of genetic heterogeneity in D-2-hydroxyglutaric aciduria PMID: 20020533
    12. The phenotype, including neurological manifestations and urinary levels of alpha-hydroxyglutarate, is reported and the phenotype-genotype relationship, is evaluated. PMID: 20052767
    13. we present three novel mutations (Gln197X, Gly211Val and c.540+1 G>A), which increase the present deleterious collection of L2HGDH gene up to 35 mutationsthat we have compiled in this study. PMID: 19911013
    14. encodes a putative mitochondrial protein with homology to FAD-dependent oxidoreductases; a mutant gene is accociated with L-2-hydroxyglutaric aciduria.propose to name the gene duranin PMID: 15385440
    15. data indicate that l-2-hydroxyglutaric aciduria is due to a deficiency in l-2-hydroxyglutarate dehydrogenase PMID: 16005139
    16. Indicate that 2-ketoglutaric acid is the metabolic precursor of L-2-hydrosyglutaric acid in L-2-hydroxyglutaric acid aciduria. PMID: 17876720
    17. We successfully treated an adult patient with L-2-hydroxyglutaric aciduria using FAD and levocarnitine. PMID: 18362286
    18. Data show that L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene in exon 3 (c.292C-->T) and in exon 7 (c.887T-->A). PMID: 18671189

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  • 相關(guān)疾?。?/div>
    L-2-hydroxyglutaric aciduria (L2HGA)
  • 亞細(xì)胞定位：
    Mitochondrion.
  • 蛋白家族：
    L2HGDH family
  • 組織特異性：
    Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 20499

    OMIM: 236792

    KEGG: hsa:79944

    STRING: 9606.ENSP00000267436

    UniGene: Hs.256034