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  4. NALCN Antibody, FITC conjugated

NALCN Antibody, FITC conjugated

  • 中文名稱：
    NALCN兔多克隆抗體, FITC偶聯(lián)
  • 貨號：
    CSB-PA815590LC01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) NALCN Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    NALCN
  • 別名：
    A530023G15Rik antibody; bA430M15.1 antibody; CanIon antibody; Canlon antibody; FLJ23913 antibody; FLJ44659 antibody; FLJ44764 antibody; Four repeat voltage gated ion channel antibody; MGC74524 antibody; Nalcn antibody; NALCN_HUMAN antibody; Putative 4 repeat voltage gated ion channel antibody; Sodium leak channel non-selective protein antibody; sodium leak channel, non selective antibody; Vgcnl1 antibody; VGCNL1 protein antibody; voltage gated channel like 1 antibody; Voltage gated channel-like protein 1 antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human Sodium leak channel non-selective protein (19-141AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    FITC
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    >95%, Protein G purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 產(chǎn)品提供形式：
    Liquid
  • 儲存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評價

靶點詳情

  • 功能：
    Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Regulates the resting membrane potential and controls neuronal excitability. Neuropeptides such as neurotensin and substance P (SP) stimulate the firing of action potentials by activating NALCN through a SRC family kinases-dependent pathway. In addition to its baseline activity, NALCN activity is enhanced/modulated by several GPCRs. Required for normal respiratory rhythm and neonatal survival. Involved in systemic osmoregulation by controlling the serum sodium concentration. NALCN is partly responsible for the substance P-induced depolarization and regulation of the intestinal pace-making activity in the interstitial cells of Cajal. Plays a critical role in both maintenance of spontaneous firing of substantia nigra pars reticulata (SNr) neurons and physiological modulation of SNr neuron excitability.
  • 基因功能參考文獻：
    1. 9-year-old male with a homozygous nonsense mutation in NALCN (c.3910C>T, p.Arg1304X) leading to profound intellectual disability, seizures, feeding difficulties, and significant periodic breathing. PMID: 29968795
    2. NALCN variant is associated with neurodevelopmental diseases. PMID: 30167850
    3. UNC80 bridges between UNC79 and the cation channel NALCN. PMID: 26545877
    4. Study identified a de novo missense mutation in NALCN, c.1768C>T, in an infant with a severe neonatal lethal form of the recently characterized congenital contractures of the limbs and face with hypotonia and developmental delay. Clinical phenotype and electrophysiologic studies show sustained muscular contraction in response to transient sensory stimuli. PMID: 27558372
    5. The present data support previous work suggesting heterozygous NALCN mutations lead to syndromic neurodevelopmental impairment. PMID: 26763878
    6. Two patients with novel mutations (p.F317C and p.V595F) and distal arthrogryposis and central hypertonicity are described. PMID: 27214504
    7. Our patients broaden the clinical spectrum associated with recessive mutations in NALCN, featuring also disrupted respiratory rhythm mimicking homozygous Nalcn knockout mice. PMID: 26923739
    8. Ohmic leak currents were identified in freshly isolated and cultured myometrial smooth muscle cells. NALCN contributes to this current. Uterine biopsies from term, non-laboring women revealed NALCN messenger RNA and protein expression in the myometrium. PMID: 26134120
    9. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex PMID: 26708753
    10. We used exome and targeted next-generation sequencing to identify de novo mutations in NALCN as the cause of a newly delineated condition, CLIFAHDD syndrome. PMID: 25683120
    11. This study found a plausible association, though not statistically confirmed, of cervical dystonia with SNPs in the NALCN region. PMID: 24227479
    12. NALCN is the gene responsible for INAD with facial dysmorphism PMID: 23749988
    13. Two mutations, one missense and one nonsense, in NALCN in two unrelated families. PMID: 24075186
    14. This study observed nominal association with rs9518320 and rs9518331, suggesting that NALCN is not related to schizophrenia risk. PMID: 20674038
    15. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20889312
    16. Observational study of gene-disease association. (HuGE Navigator) PMID: 20674038
    17. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
    18. UNC80 functions as a scaffold for Src kinases in NALCN channel function. PMID: 19535918
    19. Data show the molecular basis of a muscarinic-activated inward sodium current that is independent of G-protein activation, and provide new insights into the properties of NALCN channels. PMID: 19575010
    20. Observational study of gene-disease association. (HuGE Navigator) PMID: 19308021

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  • 相關(guān)疾病：
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1); Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD)
  • 亞細胞定位：
    Membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Cation-nonselective channel family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 19082

    OMIM: 611549

    KEGG: hsa:259232

    STRING: 9606.ENSP00000251127

    UniGene: Hs.525146



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