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DBT Antibody

  • 货号：
    CSB-PA006530GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P11182
  • 基因名：
    DBT
  • 别名：
    DBT antibody; BCATE2 antibody; Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex antibody; mitochondrial antibody; EC 2.3.1.168 antibody; 52 kDa mitochondrial autoantigen of primary biliary cirrhosis antibody; Branched chain 2-oxo-acid dehydrogenase complex component E2 antibody; BCOADC-E2 antibody; Branched-chain alpha-keto acid dehydrogenase complex component E2 antibody; BCKAD-E2 antibody; BCKADE2 antibody; Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex antibody; Dihydrolipoamide branched chain transacylase antibody; Dihydrolipoyllysine-residue antibody; 2-methylpropanoyl)transferase antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human DBT
  • 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
  • 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：
    The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component.
  • 基因功能参考文献：
    1. The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved. PMID: 24268812
    2. Deletion in DBT gene is associated with maple syrup urine disease. PMID: 23313820
    3. 4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein PMID: 20570198
    4. a distinct subset of antimitochondrial antibodies recognize sequences on branched-chain acyltransferase which located outside of the lipoyl binding domain, in primary biliary cirrhosis and overlap syndrome with autoimmune hepatitis PMID: 14768949
    5. presence of the interdomain linker restricts the motional freedom of the hbSBD more significantly than hbLBD, and that the linker region likely exists as a soft rod rather than a flexible string in solution. PMID: 16861235
    6. in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT genes PMID: 17922217
    7. 30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA, 5 in BCKDHB and 6 in DBT); 7 of are described for the first time. PMID: 18378174
    8. Examination of the deletion mutation in the E2 (DBT) gene facilitated early MSUD diagnosis and was beneficial for the determination of the proper course of treatment. PMID: 18533943
    9. In 37% (12 patients) of a total of 64 alleles, the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA gene, in 44% (14 patients) in the BCKDHB gene and in 19% (6 patients) in the DBT gene. PMID: 19480318
    10. two novel type IB MSUD mutations in Israeli patients, which affect the E1beta subunit in the decarboxylase (E1) component of the branched-chain alpha-ketoacid dehydrogenase complex PMID: 11448970
    11. Mutation in DBT causes a subset of maple syrup urine disease in Ashkenazi Jewish population. PMID: 11509994

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  • 相关疾病：
    Maple syrup urine disease 2 (MSUD2)
  • 亚细胞定位：
    Mitochondrion matrix.
  • 蛋白家族：
    2-oxoacid dehydrogenase family
  • 数据库链接：

    HGNC: 2698

    OMIM: 248600

    KEGG: hsa:1629

    STRING: 9606.ENSP00000359151

    UniGene: Hs.709187