Anti-SCN4A antibody (ab65165)

Overview

• Product nameAnti-SCN4A antibodySee all SCN4A primary antibodies ...
• Description
  Rabbit polyclonal to SCN4A
• Tested applicationsIHC-P, WB more details
• Species reactivity
  Reacts with: Human
  Predicted to work with: Mouse, Rat
• Immunogen

  Synthetic peptide derived from C terminal of human SCN4A.

Properties

• FormLiquid
• Storage instructionsStore at +4°C short term (1-2 weeks). Aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
• Storage bufferPreservative: None
  Constituents: Whole serum
• PurityWhole antiserum
• Clonality Polyclonal
• IsotypeIgG
• Research Areas
  • Neuroscience
  • Neurotransmission
  • Receptors / Channels
  • Sodium Channels

Applications

Target

• FunctionThis 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.
• Involvement in diseaseDefects 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.
• Sequence similaritiesBelongs to the sodium channel (TC 1.A.1.10) family. Nav1.4/SCN4A subfamily.
  Contains 1 IQ domain.
• DomainThe 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.
• Cellular localizationMembrane.

Target information above from: UniProt accession P35499 The UniProt Consortium
The Universal Protein Resource (UniProt) in 2010
Nucleic Acids Res. 38:D142-D148 (2010) .

Information by UniProt
• Database links
  • Entrez Gene: 6329 Human
  • Entrez Gene: 110880 Mouse
  • Entrez Gene: 25722 Rat
  • Omim: 603967 Human
  • SwissProt: P35499 Human
  • SwissProt: Q9ER60 Mouse
  • SwissProt: P15390 Rat
  • Unigene: 46038 Human

  • Unigene: 432528 Mouse
  • Unigene: 9700 Rat

  see all

• Alternative names
  HYKPP antibodyHYPP antibodyNa(V)1.4 antibody

  NAC1A antibodyNav1.4 antibodyScn4a antibodySCN4A_HUMAN antibodySkeletal muscle voltage dependent sodium channel type IV alpha subunit antibodySkM1 antibodySodium channel protein skeletal muscle subunit alpha antibodySodium channel protein type 4 subunit alpha antibodySodium channel protein type IV subunit alpha antibodySodium channel voltage gated type IV alpha subunit antibodyVoltage gated sodium channel subunit alpha Nav1.4 antibodyVoltage gated sodium channel type 4 alpha antibodyVoltage-gated sodium channel subunit alpha Nav1.4 antibody

  see all