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BCKDHA Antibody

  • 货号：
    CSB-PA002605LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Western Blot
      Positive WB detected in: Hela whole cell lysate
      All lanes: BCKDHA antibody at 4.58µg/ml
      Secondary
      Goat polyclonal to rabbit IgG at 1/50000 dilution
      Predicted band size: 51 kDa
      Observed band size: 51 kDa
    • IHC image of CSB-PA002605LA01HU diluted at 1:200 and staining in paraffin-embedded human brain tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) BCKDHA Polyclonal antibody
  • Uniprot No.：
    P12694
  • 基因名：
    BCKDHA
  • 别名：
    Branched chain alpha keto acid dehydrogenase E1 component alpha polypeptide antibody; FLJ45695 antibody; OVD1A antibody; 2 oxoisovalerate dehydrogenase (lipoamide) antibody; 2 oxoisovalerate dehydrogenase subunit alpha, mitochondrial antibody; 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial antibody; BCKDE1A antibody; BCKDH E1 alpha antibody; BCKDH E1-alpha antibody; BCKDHA antibody; Branched chain alpha keto acid dehydrogenase E1 component alpha chain antibody; Branched chain keto acid dehydrogenase E1 alpha polypeptide antibody; Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease) antibody; Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain antibody; MSU antibody; MSUD1 antibody; ODBA_HUMAN antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial protein (268-407AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，BCKDHA Antibody (CSB-PA002605LA01HU)，的标记方式是Non-conjugated。对于BCKDHA Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA002605LB01HU BCKDHA Antibody, HRP conjugated ELISA
    FITC CSB-PA002605LC01HU BCKDHA Antibody, FITC conjugated
    Biotin CSB-PA002605LD01HU BCKDHA Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, WB, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:5000
    IHC 1:200-1:500
  • 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).
  • 基因功能参考文献：
    1. pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease PMID: 29673582
    2. Data suggest that the following genetic modifications are involved in patients with maple syrup urine disease in Iran: (1) mutation in BCKDHA (branched chain keto acid dehydrogenase E1 alpha); (2) mutation in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta); (3) mutation in DBT (dihydrolipoamide branched chain transacylase E2; one patient). PMID: 29306928
    3. we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants PMID: 26830710
    4. Five novel mutations in BCKDHA were identified in MSUD patients. PMID: 26453840
    5. 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
    6. Targeted parallel sequencing revealed novel mutations in the gene BCKDHA for prenatal testing of maple syrup urine disease. PMID: 24603436
    7. Data from infant/her heterozygous parents (first cousins) suggest homozygous mutation (S144I) in BCKDHA can result in maple syrup urine disease (IA); molecular modeling suggests this missense mutation in exon 4 affects protein stability. [CASE STUDY] PMID: 23729548
    8. Case Report: functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene in maple syrup urine disease. PMID: 20431954
    9. A list of nine primary candidate genes for T2D and five for obesity were identified in this paper. Two genes, LPL and BCKDHA, were common to these two sets. PMID: 16757574
    10. BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population. PMID: 22593002
    11. autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome. PMID: 22956686
    12. identified 4 novel mutations of the BCKDHA gene in 3 Korean newborns; to the best of knowledge, this is the first report of maple syrup urine disease confirmed by genetic analysis in Korea PMID: 21844576
    13. Case Report: Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination. PMID: 19085071
    14. five mutations, three of them novel, responsible for maple syrup urine disease PMID: 19715473
    15. the conformational stability underlying the folding of this lipoic acid bearing domain of human mitochondrial branched chain alpha-ketoacid dehydrogenase PMID: 15322287
    16. 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
    17. 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
    18. A founder mutation in the BCKDHA is responsible for the high incidence of the maple syrup urine disease among Portuguese Gypsies. PMID: 19456321
    19. 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

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  • 相关疾病：
    Maple syrup urine disease 1A (MSUD1A)
  • 亚细胞定位：
    Mitochondrion matrix.
  • 蛋白家族：
    BCKDHA family
  • 数据库链接：

    HGNC: 986

    OMIM: 248600

    KEGG: hsa:593

    STRING: 9606.ENSP00000269980

    UniGene: Hs.433307