background:
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 heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Function:
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.
Subunit:
The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence represents a large polypeptide. Interacts with NEDD4L (By similarity).
Subcellular Location:
Membrane; Multi-pass membrane protein.
Post-translational modifications:
May be ubiquitinated by NEDD4L; which would promote its endocytosis (By similarity).
DISEASE:
Defects in SCN2A are the cause of benign familial infantile convulsions type 3 (SFIC3) [MIM:607745]. SFIC3 is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae.
Defects in SCN2A are the cause of epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721]. EIEE11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities.
Similarity:
Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily.
Contains 1 IQ domain.
Database links:
Entrez Gene: 6326 Human
Entrez Gene: 110876 Mouse
Entrez Gene: 24766 Rat
Omim: 182390 Human
SwissProt: Q99250 Human
SwissProt: P04775 Rat
Unigene: 93485 Human
Unigene: 220329 Mouse
Unigene: 89192 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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