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PrecisION hNav1.4-HEK Recombinant Cell Line
Description:
PrecisION hNav1.4-HEK Recombinant Cell Line
Trade Name:
Upstate (Millipore)
Qty/Pk:
2 mL
Product Overview:
Recombinant HEK293 cell line expressing the human Nav1.4 (type IV voltage gated sodium channel alpha subunit, skeletal muscle).
Genbank_accession_number: AY212253
Genbank_accession_number: AY212253
Background Information:
hNav1.4 is primarily expressed in skeletal muscle and involved in the initiation and transmission of muscle action potentials. This ion channel is a target for local anaesthetics used in the treatment of myotonia, a disorder characterized by the slow relaxation of muscles after voluntary contraction or electrical stimulation. Myotonia is a symptom commonly seen in patients with myotonic muscular dystrophy.
Application Notes:
The electrophysiological and pharmacological properties of the cell line were examined using conventional whole-cell recording techniques. The current voltage relationship and activation/inactivation kinetics were similar to previously reported data for hNav1.4 currents. The currents also exhibited state-dependent block using lidocaine and were potently blocked by μ-conotoxin GIIIA, a selective blocker of muscle sodium channels. Functional channel expression over time was monitored using IonWorks™ HT. At least 80% of cells (range 80-100%) expressed hNav1.4 currents over 500 pA for 40 passages.
Usage Statement:
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Entrez Gene Summary:
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders.
UniProt Summary:
FUNCTION: SwissProt: P35499 # 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.
SIZE: 1836 amino acids; 208032 Da
SUBUNIT: Muscle sodium channels contain an alpha subunit and a smaller beta subunit. Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
DOMAIN: SwissProt: P35499 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.
DISEASE: SwissProt: P35499 # Defects in SCN4A are the cause of paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]. PMC is an autosomal dominant sodium channel disease 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. The muscle stiffness due to membrane hyperexcitability. & Defects in SCN4A are a cause of hypokalemic periodic paralysis (HYPOKPP) [MIM:170400]; also designated HOKPP. HYPOKPP is an autosomal dominant disorder manifested by episodic muscle weakness associated with low serum potassium. Muscle weakness could be due to altered excitation-contraction coupling in HYPOKPP patients. & Defects in SCN4A are the cause of hyperkalemic periodic paralysis (HYPP) [MIM:170500]. HYPP is an autosomal dominant sodium channel disease characterized by episodic attacks of muscle weakness. Attacks of muscle weakness can be provoked in HYPP patients by oral potassium administration, whereas this is a remedy for HYPOKPP. & Defects in SCN4A are the cause of autosomal dominant potassium-aggravated myotonia [MIM:608390]. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia. & Defects in SCN4A are the cause of a congenital myasthenic syndrome [MIM:603967]. This syndrome is 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.
SIMILARITY: Belongs to the sodium channel family. & Contains 1 IQ domain.
SIZE: 1836 amino acids; 208032 Da
SUBUNIT: Muscle sodium channels contain an alpha subunit and a smaller beta subunit. Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
DOMAIN: SwissProt: P35499 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.
DISEASE: SwissProt: P35499 # Defects in SCN4A are the cause of paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]. PMC is an autosomal dominant sodium channel disease 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. The muscle stiffness due to membrane hyperexcitability. & Defects in SCN4A are a cause of hypokalemic periodic paralysis (HYPOKPP) [MIM:170400]; also designated HOKPP. HYPOKPP is an autosomal dominant disorder manifested by episodic muscle weakness associated with low serum potassium. Muscle weakness could be due to altered excitation-contraction coupling in HYPOKPP patients. & Defects in SCN4A are the cause of hyperkalemic periodic paralysis (HYPP) [MIM:170500]. HYPP is an autosomal dominant sodium channel disease characterized by episodic attacks of muscle weakness. Attacks of muscle weakness can be provoked in HYPP patients by oral potassium administration, whereas this is a remedy for HYPOKPP. & Defects in SCN4A are the cause of autosomal dominant potassium-aggravated myotonia [MIM:608390]. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia. & Defects in SCN4A are the cause of a congenital myasthenic syndrome [MIM:603967]. This syndrome is 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.
SIMILARITY: Belongs to the sodium channel family. & Contains 1 IQ domain.
Species:
Human
Quality Assurance:
Mycoplasma Testing:
The cell line has been screened to confirm the absence of Mycoplasma species
The cell line has been screened to confirm the absence of Mycoplasma species
Cell Type:
HEK
Cell Line Type:
Ion Channel Cell Lines
Components:
Pack contains 2 vials of mycoplasma-free cells, 1 ml per vial
Brand Family:
Upstate
Host Cells:
293 cell line
Presentation:
2 x 1 ml aliquots
Protein Target:
hNav1.4
UniProt Number:
Target Sub-Family:
Sodium
Packaging:
2 x 1 ml aliquots
Gene Symbol:
- SCN4A
- Nav1.4
- SkM1
- HYKPP
- HYPP
- NAC1A
- Na(V)1.4
Protein or Enzyme Type:
Ion Channels
Product Name:
PrecisION hNav1.4-HEK Recombinant Cell Line
Entrez Gene Number:
Alternate Names:
- SCN4A
- Nav1.4
- SkM1
- HYKPP
- HYPP
- NAC1A
- Na(V)1.4