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SUCLG1 Antibody

  • 货号：
    CSB-PA022919GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P53597
  • 基因名：
    SUCLG1
  • 别名：
    FLJ21114 antibody; FLJ43513 antibody; GALPHA antibody; MTDPS9 antibody; SCS alpha antibody; SCS-alpha antibody; SUCA_HUMAN antibody; Succinate CoA ligase alpha subunit antibody; Succinyl CoA ligase [GDP forming] subunit alpha mitochondrial antibody; Succinyl CoA synthetase subunit alpha antibody; Succinyl-CoA ligase [ADP/GDP-forming] subunit alpha; mitochondrial antibody; Succinyl-CoA synthetase subunit alpha antibody; SUCLA1 antibody; SUCLG 1 antibody; SUCLG1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human SUCLG1
  • 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 0.02% 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：
    Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The alpha subunit of the enzyme binds the substrates coenzyme A and phosphate, while succinate binding and specificity for either ATP or GTP is provided by different beta subunits.
  • 基因功能参考文献：
    1. We report two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy. Mutational analysis of SUCLG1 gene showed the presence of c.41T > C in exon 1 in a homozygous state. This mutation substitutes a conserved methionine residue to a threonine at position 14 (p.M14T) located at the SUCLG1 protein mitochondrial targeting sequence. PMID: 29217198
    2. These abnormal phenotypes are rescued upon ectopic expression of wild-type SUCLG1 in the patient's fibroblasts, thus functionally confirming the pathogenic nature of the SUCLG1 VUS identified in this patient and expanding the phenotypic spectrum for SUCLG1 deficiency PMID: 27484306
    3. Long survival, to age 20 years or older, was reported in 12% of SUCLA2 and in 10% of SUCLG1 patients. PMID: 26475597
    4. First Chinese report of succinyl-CoA ligase deficiency caused by novel SUCLG1 mutations; five novel pathogenic mutations in SUCLG1 were identified PMID: 26028457
    5. 3 novel mutations have been identified in patients with the mitochondrial DNA depletion syndrome (c.1048G>A and c.1049G>T in SUCLA2 and c.531+4A>T in SUCLG1). PMID: 22980518
    6. Our results suggest that SUCLG1 mutations that lead to complete absence of SUCLG1 protein are responsible for a very severe disorder with antenatal manifestations, whereas a SUCLA2-like phenotype is found in patients with residual SUCLG1 protein. PMID: 20693550
    7. This report enlarges the phenotypic spectrum of SUCLG1 mutations and confirms that a characteristic metabolic profile (presence of MMA and C4-DC carnitine in urines) and basal ganglia MRI lesions are the hallmarks of SCS defects. PMID: 20197121
    8. A novel mutation in the SUCLG1 gene was found in two newborns having lethal lactic acidosis, multi-organ failure and congenital malformations including interrupted aortic arch. PMID: 20227526

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  • 相关疾病：
    Mitochondrial DNA depletion syndrome 9 (MTDPS9)
  • 亚细胞定位：
    Mitochondrion.
  • 蛋白家族：
    Succinate/malate CoA ligase alpha subunit family
  • 数据库链接：

    HGNC: 11449

    OMIM: 245400

    KEGG: hsa:8802

    STRING: 9606.ENSP00000377446

    UniGene: Hs.270428