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.
Statements (79)
| Predicate | Object |
|---|---|
| instanceOf | human gene ⓘ |
| alias |
NAv1.1 alpha subunit
NERFINISHED
ⓘ
Nav1.1 NERFINISHED ⓘ sodium channel, voltage-gated, type I, alpha subunit NERFINISHED ⓘ |
| associatedWithDisease |
Dravet syndrome
NERFINISHED
ⓘ
GEFS+ NERFINISHED ⓘ epileptic encephalopathy ⓘ familial hemiplegic migraine type 3 ⓘ febrile seizures ⓘ generalized epilepsy with febrile seizures plus ⓘ severe myoclonic epilepsy of infancy NERFINISHED ⓘ |
| 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
NERFINISHED
ⓘ
neuronal voltage-gated sodium channel alpha subunit ⓘ sodium channel protein type 1 subunit alpha NERFINISHED ⓘ |
| EnsemblGeneID | ENSG00000144285 ⓘ |
| EntrezGeneID | 6323 ⓘ |
| expressedIn |
GABAergic interneurons
NERFINISHED
ⓘ
central nervous system ⓘ |
| geneType | protein coding ⓘ |
| hasOrtholog | Scn1a (mouse) NERFINISHED ⓘ |
| HGNCID | HGNC:10585 NERFINISHED ⓘ |
| 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 NERFINISHED ⓘ |
| 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 ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.