Sodium Channel Protein 1 Alpha
From Anvita Health Wiki
Contents |
Function
- mediates voltage-dependent Na+ permeability of excitable membranes
- assumes opened or closed conformation in response to voltage difference across membrane
- forms a Na+-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient
- the Na+ channel consists of a large polypeptide & 2-3 smaller ones
Structure
- large polypeptide contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) & one positively charged segment (S4)
- segments S4 are probably the voltage-sensors & are characterized by a series of positively charged amino acids at every third position
- belongs to the Na+ channel family
- contains 1 IQ domain
Compartment
- membrane
Alternative-splicing
- named isoforms=2
Pathology
- defects in SCN1A are the cause of
- generalized epilepsy with febrile seizures plus type 2
- severe myoclonic epilepsy in infancy
- intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC)
- familial hemiplegic migraine type 3
- familial febrile convulsions type 3
More General Terms
Additional Terms
Internet Database
UniProt: [1]
Entrez gene: 6323
Kegg: [2]
OMIM: 182389
OMIM: 604233
OMIM: 604403
OMIM: 607208
OMIM: 609634
Prosite: [3]
References
