| Entrez Gene ID |
11280 (NCBI Gene) |
| Official Gene Symbol |
SCN11A (GeneCards) |
| Number of variants in SCN11A in this database |
76 (view all the variants) |
| Full name |
sodium voltage-gated channel alpha subunit 11 |
| Band |
3p22.2 |
| Other IDs |
Vega:
OTTHUMG00000048246
OMIM:
604385
HGNC:
HGNC:10583
Ensembl:
ENSG00000168356
|
| Other names |
NaN,
PN5,
FEPS3,
HSAN7,
SNS-2,
NAV1.9,
SCN12A
|
| Summary |
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017] |