SCN1A Gene: Sodium Voltage-Gated Channel Alpha Subunit 1
A critical gene encoding the Nav1.1 sodium channel, implicated in epilepsy and neurodevelopmental disorders.
Gene Information Card
| Symbol | SCN1A |
|---|---|
| Full Name | sodium voltage-gated channel alpha subunit 1 |
| Gene Type | protein coding |
| Chromosomal Location | 2q24.3 |
| NCBI Gene ID | 6323 ncbi.nlm.nih.gov/gene/6323 |
| Ensembl ID | ENSG00000044217 |
| UniProt ID | P35498 |
| OMIM ID | 182389 |
| HGNC ID | 10585 |
| Aliases | EIEE6, FEB3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1A, SMEI |
Description
The SCN1A gene encodes the alpha-1 subunit of the voltage-gated sodium channel Nav1.1, which is critical for the initiation and propagation of action potentials in neurons. It is highly expressed in the brain, particularly in inhibitory interneurons, where it regulates neuronal excitability. Mutations in SCN1A are associated with a spectrum of epilepsy syndromes, ranging from mild febrile seizures to severe Dravet syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dravet syndrome | Loss-of-function mutations reduce sodium current in inhibitory interneurons, leading to hyperexcitability. | ClinVar, OMIM |
| Generalized epilepsy with febrile seizures plus (GEFS+) | Missense mutations often cause partial loss or gain of function, altering channel gating. | ClinVar, OMIM |
| Familial febrile seizures | Mutations may lower seizure threshold, but often with milder phenotype. | ClinVar, OMIM |
| Epileptic encephalopathy, early infantile, 6 | Severe loss-of-function mutations cause early-onset encephalopathy. | OMIM |
| Migraine, familial hemiplegic, 3 | Rare missense mutations can alter channel function, leading to migraine with aura. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | Highest expression in cerebral cortex and cerebellum |
| Testis | Low | Low expression |
| Adrenal gland | Low | Low expression |
| Heart | Not detected | Minimal expression |
| Liver | Not detected | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Neuronal-like cells |
| U-87 MG (glioblastoma) | Medium | Astrocytic cells |
| HepG2 (hepatocellular carcinoma) | Low | Non-neuronal |
| A549 (lung carcinoma) | Low | Non-neuronal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234delC (frameshift) | Frameshift | Rare | Loss-of-function, associated with Dravet syndrome |
| p.Thr875Met (missense) | Missense | Rare | Gain-of-function, associated with GEFS+ |
| p.Arg1648His (missense) | Missense | Rare | Loss-of-function, associated with Dravet syndrome |
| c.602+1G>A (splice site) | Splice site | Rare | Loss-of-function, associated with Dravet syndrome |
Mutation functional classification
Loss of Function (LOF)
Most common mechanism in Dravet syndrome; haploinsufficiency or dominant-negative effects reduce sodium current.
Gain of Function (GOF)
Rare missense mutations can increase channel activity, seen in some GEFS+ cases.
Dominant Negative (DN)
Mutant subunits may interfere with wild-type subunits, reducing overall channel function.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated sodium channel activity | • sodium ion binding |
| • ion channel activity | • plasma membrane |
| • integral component of plasma membrane | • action potential propagation |
| • neuronal action potential |
Pathways
• Voltage-gated sodium channel complex
• Ion transport
• Neuronal signaling
• Epilepsy pathways
Protein Summary
The Nav1.1 protein is a large, multi-domain alpha subunit that forms the pore of the sodium channel. It consists of four homologous domains (I-IV), each with six transmembrane segments. The protein is essential for the rapid depolarization phase of action potentials in neurons. Mutations affecting its structure or function lead to altered neuronal excitability and epilepsy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCN1A Knockout HEK293 Cell Line | EDJ-KQ3858 | Human | 6323 | Details Get a Quote |
| SCN1A Knockout HeLa Cell Line | EDJ-KQ54397 | Human | 6323 | Details Get a Quote |
| SCN1A Knockout A-549 Cell Line | EDJ-KQ62888 | Human | 6323 | Details Get a Quote |
| SCN1A Knockout HCT 116 Cell Line | EDJ-KQ71354 | Human | 6323 | Details Get a Quote |
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