KCNT1 Antibody, Biotin conjugated
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中文名稱：KCNT1兔多克隆抗體, Biotin偶聯
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貨號：CSB-PA686387LD01HU
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規格：￥880
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) KCNT1 Polyclonal antibody
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Uniprot No.：
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基因名：KCNT1
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別名：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
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human Potassium channel subfamily T member 1 protein (1026-1230AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：Biotin
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 -
產品提供形式：Liquid
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應用范圍：ELISA
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
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靶點詳情
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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).
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基因功能參考文獻：
- G288S missense mutation, associated with seizures and neurodevelopmental delay resulted in larger whole cell K+ currents compared with wild-type KCNT1 currents. PMID: 28747464
- Case report describing 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries. PMID: 28987752
- Stimulation of Slack K(+) channels alters mass at the plasma membrane by triggering dissociation of Phactr-1. PMID: 27545877
- 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
- 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
- Better understanding of the mechanisms underlying KCNT1-related disease will produce further improvements in treatment of the associated severe seizure disorders. PMID: 26740507
- The sodium sensitivity of these epilepsy causing mutants probably determines the [Na(+)]i concentration at which these mutants exert their pathological effects. PMID: 26725113
- 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
- This study demonstrate that KCNT1 mutations are strongly associated with early-onset epileptic encephalopathy. PMID: 26140313
- Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients (20%) PMID: 25339316
- Nine different mutations of the KCNT1 (Slack) Na(+)-activated K(+) channel give rise to three distinct forms of epilepsy. PMID: 25482562
- 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
- Genetic studies reveal two novel genes for Ohtahara Syndrome: KCNT1 and PIGQ. PMID: 24463883
- 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
- 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
- This study demonistrated that KCNT1 mutations implicated in epilepsy cause a marked increase in function PMID: 24591078
- 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
- Mutations in KCNT1 cause a severe form of ADNFLE and sporadic NFLE. PMID: 23086396
- Our data identify KCNT1 as a major disease-associated gene in Malignant migrating partial seizures of infancy . PMID: 23086397
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相關疾病：Epileptic encephalopathy, early infantile, 14 (EIEE14); Epilepsy, nocturnal frontal lobe, 5 (ENFL5)
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亞細胞定位：Cell membrane; Multi-pass membrane protein.
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蛋白家族：Potassium channel family, Calcium-activated (TC 1.A.1.3) subfamily, KCa4.1/KCNT1 sub-subfamily
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組織特異性：Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle.
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