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SCN1A

SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1) is a Protein Coding gene. Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Diseases associated with SCN1A include Dravet Syndrome and Generalized Epilepsy With Febrile Seizures Plus, Type 2.
Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Transporters, Voltage-gated ion channels

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Group enriched (Oligodendrocyte precursor cells, Inhibitory neurons, Excitatory neurons)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Group enriched (ASC TERT1, Hep G2)

Interaction

The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1 (SCN1B), beta-2 (SCN2B), beta-3 (SCN3B) and/or beta-4 (SCN4B). Beta-1 (SCN1B) and beta-3 (SCN3B) are non-covalently associated with alpha, while beta-2 (SCN2B) and beta-4 (SCN4B) are covalently linked by disulfide bonds. Interacts with FGF13 (PubMed:21566136). Interacts with SCN1B (PubMed:17928445, PubMed:15525788). Interacts with the conotoxin GVIIJ (PubMed:24497506). Interacts with the spider beta/delta-theraphotoxin-Pre1a (PubMed:28428547).

Molecular function

Ion channel, Sodium channel, Voltage-gated channel

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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