Sodium Channel Protein 2 Alpha 1
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 the membrane,
- forms a Na+-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient
- may be ubiquitinated by NEDD4L; which would promote its endocytosis ( putative)
- the Na+ channel consists of a large polypeptide & 2-3 smaller ones interacts with NEDD4L ( putative)
Structure
- large polypeptide with 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 SCN2A are a cause of
- generalized epilepsy with febrile seizures plus (GEFS+)
- benign familial infantile convulsions type 3
More General Terms
Additional Terms
Internet Database
UniProt: [1]
Entrez gene: 6326
Kegg: [2]
OMIM: 182390
OMIM: 604233
OMIM: 607745
Prosite: [3]
References
