概述

  • 产品名称Anti-SCN4A抗体
    参阅全部 SCN4A 一抗
  • 描述
    兔多克隆抗体to SCN4A
  • 经测试应用适用于: IHC-P, WBmore details
  • 种属反应性
    与反应: Human
    预测可用于: Mouse, Rat
  • 免疫原

    Synthetic peptide derived from C terminal of human SCN4A.

性能

  • 形式Liquid
  • 存放说明Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.
  • 存储溶液Preservative: None
    Constituents: Whole serum
  • 纯度Whole antiserum
  • 克隆多克隆
  • 同种型IgG
  • 研究领域

应用

Our Abpromise guarantee covers the use of ab65165 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

应用 Ab评论 说明
IHC-P Use at an assay dependent concentration.
WB 1/1000 - 1/5000. Predicted molecular weight: 208 kDa.

靶标

  • 功能This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. This sodium channel may be present in both denervated and innervated skeletal muscle.
  • 疾病相关Defects in SCN4A are the cause of paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]. PMC is an autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, nonprogressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP.
    Defects in SCN4A are a cause of periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]. It is an autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.
    Defects in SCN4A are the cause of periodic paralysis hyperkalemic (HYPP) [MIM:170500]. HYPP is an autosomal dominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Concurrence of myotonia is found in HYPP patients.
    Defects in SCN4A are the cause of periodic paralysis normokalemic (NKPP) [MIM:170500]. NKPP is a disorder closely related to hyperkalemic periodic paralysis, but marked by a lack of alterations in potassium levels during attacks of muscle weakness.
    Defects in SCN4A are the cause of myotonia SCN4A-related (MYOSCN4A) [MIM:608390]. Myotonia is characterized by sustained muscle tensing that prevents muscles from relaxing normally. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. MYOSCN4A is a phenotypically highly variable myotonia aggravated by potassium loading, and often by cold. MYOSCN4A includes myotonia permanens and myotonia fluctuans. In myotonia permanens, the myotonia is generalized and there is a hypertrophy of the muscle, particularly in the neck and the shoulder. Attacks of severe muscle stiffness of the thoracic muscles may be life threatening due to impaired ventilation. In myotonia fluctuans, the muscle stiffness may fluctuate from day to day, provoked by exercise.
    Defects in SCN4A are the cause of a congenital myasthenic syndrome acetazolamide-responsive (CMSAR) [MIM:614198]. A congenital myasthenic syndrome associated with fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation.
  • 序列相似性Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.4/SCN4A subfamily.
    Contains 1 IQ domain.
  • 结构域The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
  • 细胞定位Membrane.
  • Information by UniProt
  • 数据库链接
  • 别名
    • HYKPP antibody
    • HYPP antibody
    • Na(V)1.4 antibody
    • NAC1A antibody
    • Nav1.4 antibody
    • Scn4a antibody
    • SCN4A_HUMAN antibody
    • Skeletal muscle voltage dependent sodium channel type IV alpha subunit antibody
    • SkM1 antibody
    • Sodium channel protein skeletal muscle subunit alpha antibody
    • Sodium channel protein type 4 subunit alpha antibody
    • Sodium channel protein type IV subunit alpha antibody
    • Sodium channel voltage gated type IV alpha subunit antibody
    • Voltage gated sodium channel subunit alpha Nav1.4 antibody
    • Voltage gated sodium channel type 4 alpha antibody
    • Voltage-gated sodium channel subunit alpha Nav1.4 antibody
    see all

Anti-SCN4A antibody (ab65165)参考文献

ab65165 has not yet been referenced specifically in any publications.

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