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KCNT1 Antibody

  • 货号：
    CSB-PA040093
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    Q5JUK3
  • 基因名：
    KCNT1
  • 别名：
    bA100C15.2 antibody; EIEE14 antibody; ENFL5 antibody; KCa4.1 antibody; KCNT1 antibody; KCNT1_HUMAN antibody; Potassium channel subfamily T member 1 antibody; Potassium channel, sodium activated subfamily T, member 1 antibody; Potassium channel, subfamily T, member 1 antibody; Sequence like a calcium-activated K+ channel antibody; SLACK antibody; Slo2.2 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthesized peptide derived from the C-terminal region of Human KCNT1.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, IHC, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:100-1:300
    ELISA 1:10000
  • 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：
    Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro).
  • 基因功能参考文献：
    1. G288S missense mutation, associated with seizures and neurodevelopmental delay resulted in larger whole cell K+ currents compared with wild-type KCNT1 currents. PMID: 28747464
    2. Case report describing 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries. PMID: 28987752
    3. Stimulation of Slack K(+) channels alters mass at the plasma membrane by triggering dissociation of Phactr-1. PMID: 27545877
    4. In the present study, we evaluated two other potential mechanisms for stabilization of Slo2 channels in a closed state: (1) dewetting and collapse of the inner pore (hydrophobic gating) and (2) constriction of the inner pore by tight criss-crossing of the cytoplasmic ends of the S6 alpha-helical segments. PMID: 27682982
    5. two de novo, heterozygous KCNT1 mutations were identified in two unrelated malignant migrating partial seizures probands. Both mutations induced a marked leftward shift in homomeric channel activation gating. PMID: 26784557
    6. Better understanding of the mechanisms underlying KCNT1-related disease will produce further improvements in treatment of the associated severe seizure disorders. PMID: 26740507
    7. The sodium sensitivity of these epilepsy causing mutants probably determines the [Na(+)]i concentration at which these mutants exert their pathological effects. PMID: 26725113
    8. We demonstrate that KCNT1 mutations are highly pleiotropic and are associated with phenotypes other than nocturnal frontal lobe epilepsy and malignant migrating focal seizures of infancy. PMID: 26122718
    9. This study demonstrate that KCNT1 mutations are strongly associated with early-onset epileptic encephalopathy. PMID: 26140313
    10. Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients (20%) PMID: 25339316
    11. Nine different mutations of the KCNT1 (Slack) Na(+)-activated K(+) channel give rise to three distinct forms of epilepsy. PMID: 25482562
    12. Slick channels, in contrast to the similar Slack channels, are the only high-conductance K+ channels strongly sensitive to small changes in cell volume. PMID: 25347289
    13. Genetic studies reveal two novel genes for Ohtahara Syndrome: KCNT1 and PIGQ. PMID: 24463883
    14. Novel variations in KCNT1 do not allow prediction of functional phenotypes that might explain, at least in part, the symptoms of malignant migrating partial seizures of infancy (MMPSI). PMID: 24315024
    15. This gene-wide tagging study revealed no association between KCNT1 17 common variations and susceptibility of GGEs or AEDs (anti-epileptic drugs) efficacy of genetic generalized epilepsies in Chinese population. PMID: 24279416
    16. This study demonistrated that KCNT1 mutations implicated in epilepsy cause a marked increase in function PMID: 24591078
    17. this study performed analysis of KCNT1 in two unrelated patients with malignant migrating partial seizures in infancy.Because the G-to-A transition was located at CG dinucleotide sequences as previously reported for KCNT1 mutations, the recurrent occurrence of de novo KCNT1 mutations indicated the hot spots of these locations. PMID: 24029078
    18. Mutations in KCNT1 cause a severe form of ADNFLE and sporadic NFLE. PMID: 23086396
    19. Our data identify KCNT1 as a major disease-associated gene in Malignant migrating partial seizures of infancy . PMID: 23086397

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  • 相关疾病：
    Epileptic encephalopathy, early infantile, 14 (EIEE14); Epilepsy, nocturnal frontal lobe, 5 (ENFL5)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Potassium channel family, Calcium-activated (TC 1.A.1.3) subfamily, KCa4.1/KCNT1 sub-subfamily
  • 组织特异性：
    Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle.
  • 数据库链接：

    HGNC: 18865

    OMIM: 608167

    KEGG: hsa:57582

    STRING: 9606.ENSP00000360822

    UniGene: Hs.104950