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NDUFAF2 Antibody

  • 货号：
    CSB-PA015638GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q8N183
  • 基因名：
  • 别名：
    B17.2 like antibody; B17.2-like antibody; B17.2L antibody; FLJ22398 antibody; MIMIT_HUMAN antibody; Mimitin antibody; Mimitin mitochondrial antibody; mitochondrial antibody; MMTN antibody; Myc induced mitochondrial protein antibody; Myc-induced mitochondrial protein antibody; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex assembly factor 2 antibody; NADH dehydrogenase (ubiquinone) complex I; assembly factor 2 antibody; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 antibody; NDUFA12 like antibody; NDUFA12 like protein antibody; NDUFA12-like protein antibody; NDUFA12L antibody; NDUFAF2 antibody; OTTHUMP00000161882 antibody; OTTHUMP00000221703 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human NDUFAF2
  • 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：
    Acts as a molecular chaperone for mitochondrial complex I assembly. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
  • 基因功能参考文献：
    1. One patient presented with Leigh syndrome and had a homozygous deletion in the NDUFAF2 gene, while the second patient had a homozygous mutation in the POLG gene, [c.1399G>A; p.Ala467Thr]. PMID: 27344355
    2. Mimitin and 14-3-3 protein zeta/delta are potential markers of paclitaxel resistance and prognostic factors in ovarian cancer. PMID: 26033570
    3. Within the clinical spectrum of Leigh disease, patients with mutations in NDUFAF2 present with a distinct clinical pattern with predominantly brainstem involvement on MRI PMID: 20571988
    4. the novel gene mimitin is a direct transcriptional target of c-Myc, and is involved in Myc-dependent cell proliferation in esophageal squamous cell carcinoma cells PMID: 15774466
    5. B17.2L occurred in a 830 kDa subcomplex specifically in patients with mutations in subunits NDUFV1 and NDUFS4 PMID: 17383918
    6. the homozygous substitution in NDUFAF2 is the disease-causing mutation, which results in a complex I deficiency in the fibroblasts PMID: 19384974

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  • 相关疾病：
    Mitochondrial complex I deficiency (MT-C1D); Leigh syndrome (LS)
  • 亚细胞定位：
    Mitochondrion.
  • 蛋白家族：
    Complex I NDUFA12 subunit family
  • 组织特异性：
    Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts.
  • 数据库链接：

    HGNC: 28086

    OMIM: 252010

    KEGG: hsa:91942

    STRING: 9606.ENSP00000296597

    UniGene: Hs.591757