Nav1.1

Nav1.1

Sodium channel, voltage-gated, type I, alpha subunit
Available structures
PDB Ortholog search: RCSB
Identifiers
SCN1A Gene
RNA expression pattern


Nav1.1, also known as the sodium channel, voltage-gated, type I, alpha subunit (SCN1A), is a protein which in humans is encoded by the SCN1A gene.[1][2][3][4]

Function

The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit and 2 smaller auxiliary beta subunits. Functional studies have indicated that the transmembrane alpha subunit of the brain sodium channels is sufficient for expression of functional sodium channels.[5][6] Brain sodium channel alpha subunits form a gene subfamily with several structurally distinct isoforms clustering on chromosome 2q24, types I, II (Nav1.2), and III (Nav1.3). There are also several distinct sodium channel alpha subunit isoforms in skeletal and cardiac muscle (Nav1.4[7] and Nav1.5,[8] respectively).

Clinical significance

Mutations in the SCNA1 gene cause inherited febrile seizures and GEFS+, type 2.[9][10][11][12]

Patent controversy

On 29 November 2008, The Sydney Morning Herald reported the first evidence of private intellectual property rights over human DNA[13] having adversely affected medical care. The Melbourne company Genetic Technologies (GTG) controls rights to the gene, and requires royalties for tests on the gene, which can help identify Dravet syndrome. Doctors on the Children's Hospital in Westmead, Australia have told journalists that they would test 50% more infants for the gene, if they could conduct the test on site.

Interactions

Nav1.1 has been shown to interact with syntrophin, alpha 1.[14]

See also

References

Further reading

External links

  • GeneReviews/NCBI/NIH/UW entry on Familial Hemiplegic Migraine
  • GeneReviews/NCBI/NIH/UW entry on SCN1A-Related Seizure Disorders
  • Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.