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Nav1.2

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Identifiers
SymbolsSCN2A ; BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; NAC2; Na(v)1.2; Nav1.2; SCN2A1; SCN2A2
External IDsOMIM182390 HomoloGene75001 IUPHAR: 579 ChEMBL: 4187 GeneCards: SCN2A Gene
RNA expression pattern
File:PBB GE SCN2A 206381 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez6326110876
EnsemblENSG00000136531ENSMUSG00000075318
UniProtQ99250A2AJZ1
RefSeq (mRNA)NM_001040142NM_001099298
RefSeq (protein)NP_001035232NP_001092768
Location (UCSC)Chr 2:
166.1 – 166.25 Mb
Chr 2:
65.62 – 65.77 Mb
PubMed search[1][2]

Navα1.2, also known as the sodium channel, voltage-gated, type II, alpha subunit is a protein that in humans is encoded by the SCN2A gene.[1] Functional sodium channels contain an ion conductive alpha subunit and one or more regulatory beta subunits. Sodium channels which contain the Navα1.2 subunit are called Nav1.2 channels.

Function

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four domains including 24 transmembrane segments 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.[1]

Clinical significance

Mutations in this gene have been implicated in cases of autism,[2] infantile spasms and bitemporal glucose hypometabolism.[3]

See also

References

  1. ^ a b "Entrez Gene: SCN2A sodium channel, voltage-gated, type II, alpha subunit". 
  2. ^ Sanders SJ,, Stephan J.; Murtha MT; Gupta AR; Murdoch JR; Raubeson MJ; Willsey AJ; Ercan-Sencicek AG et al. (2012). "De novo mutations revealed by whole-exome sequencing are strongly associated with autism". Nature. doi:10.1038/nature10945. 
  3. ^ Sundaram SK, Chugani HT, Tiwari VN, Huq AH (July 2013). "SCN2A Mutation Is Associated With Infantile Spasms and Bitemporal Glucose Hypometabolism". Pediatr. Neurol. 49 (1): 46–9. PMID 23827426. doi:10.1016/j.pediatrneurol.2013.03.002. 

Further reading

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External links

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