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Gene : SCN8A Homo sapiens

Name  ? sodium voltage-gated channel alpha subunit 8 Cytological Location  12q13.13
Brief Description  sodium voltage-gated channel alpha subunit 8
description  This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
  • synonyms:
  • CIAT,
  • PN4,
  • sodium channel, voltage gated, type VIII, alpha subunit,
  • CIAT,
  • MED,
  • CerIII,
  • CERIII,
  • uc001ryw.4,
  • NaCh6,
  • NaCh6,
  • HGNC:10596,
  • Nav1.6,
  • OTTHUMG00000169490,
  • AB027567,
  • PN4,
  • sodium channel, voltage gated, type VIII alpha subunit,
  • sodium channel, voltage gated, type VIII, alpha polypeptide,
  • SCN8A,
  • Nav1.6,
  • EIEE13,
  • MED,
  • MYOCL2,
  • BFIS5,
  • NM_014191
  • identifiers:
  • 6334,
  • ENSG00000196876,
  • SCN8A

Genome feature

Region: gene ? Length: 222907  
Location: 12:51589958-51812864 Cyto location: 12q13.13


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Disease

3 Diseases

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Other

110 SN Ps

5 Cross References

18 Data Sets

17 Homologues

0 Located Features

90 Rna Seq Results