SCN1A

E874307

SCN1A is a human gene encoding a neuronal voltage-gated sodium channel alpha subunit whose mutations are a major cause of Dravet syndrome and other epilepsy disorders.

All labels observed (4)

How this entity was disambiguated

Statements (79)

Predicate Object
instanceOf human gene
alias NAv1.1 alpha subunit
Nav1.1
sodium channel, voltage-gated, type I, alpha subunit
linked to: SCN1A
associatedWithDisease Dravet syndrome
GEFS+
epileptic encephalopathy
familial hemiplegic migraine type 3
febrile seizures
generalized epilepsy with febrile seizures plus
severe myoclonic epilepsy of infancy
linked to: Dravet syndrome
biologicalProcess generation of action potential
neuronal excitability
cellularComponent axon initial segment
nodes of Ranvier
plasma membrane
chromosomalBand 2q24.3
clinicalTesting genetic testing for epilepsy
contraindicatedDrugClass sodium channel–blocking antiepileptic drugs in Dravet syndrome
drugResponse sensitivity to sodium channel blockers
encodes Nav1.1
neuronal voltage-gated sodium channel alpha subunit
sodium channel protein type 1 subunit alpha
EnsemblGeneID ENSG00000144285
EntrezGeneID 6323
expressedIn GABAergic interneurons
central nervous system
geneType protein coding
hasOrtholog Scn1a (mouse)
HGNCID HGNC:10585
inheritancePattern autosomal dominant
locatedOnChromosome chromosome 2
molecularFunction sodium ion transmembrane transporter activity
voltage-gated sodium channel activity
mutationEffect haploinsufficiency
loss of function
OMIMID 182389
organism Homo sapiens
pathway neuronal system
voltage-gated sodium channel activity pathway
proteinFamily voltage-gated sodium channel alpha subunit family
RefSeq_mRNA NM_001165963
NM_001165964
NM_001165965
NM_001165966
NM_001165967
NM_001165968
NM_001165969
NM_001165970
NM_001165971
NM_001165972
NM_001165973
NM_001165974
NM_001165975
NM_001165976
NM_001165977
NM_001165978
NM_001165979
NM_001165980
NM_001165981
NM_001165982
NM_001165983
NM_001165984
NM_001165985
NM_001165986
NM_001165987
NM_001165988
NM_001165989
NM_001165990
NM_001165991
NM_001165992
NM_001165993
NM_001165994
NM_001165995
NM_001165996
NM_001165997
NM_001165998
NM_001165999
UniProtID P35498

How these facts were elicited

Referenced by (5)

Full triples — surface form annotated when it differs from this entity's canonical label.

Dravet syndrome associatedWithGene SCN1A
subject linked to: DS
SCN1A alias sodium channel, voltage-gated, type I, alpha subunit
linked to: SCN1A
Nav1.1 sodium channel encodedBy SCN1A gene
linked to: SCN1A
Nav1.1 sodium channel hasSystematicName sodium channel protein type 1 subunit alpha
linked to: SCN1A