SCN5A

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Description

sodium channel, voltage gated, type V alpha subunit

Protein family

Disease related genes, FDA approved drug targets, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Kim et al 2014), Transporters, Voltage-gated ion channels

Chromosome

3:p22.2 (38548057 - 38649673)

Ensembl ID

ENSG00000183873  (ver. 84.38)

Orthologs

Mouse Scn5a: ENSMUSG00000032511

UniProt

Q14524

neXtProt

NX_Q14524

Human splice variants
Mouse splice variants