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