Protein Name sodium voltage-gated channel alpha subunit 5
Organism Homo sapiens
Gene ID 6331
Gene Symbol

SCN5A

UniProt Q14524 (SCN5A_HUMAN), K4DIA1 (K4DIA1_HUMAN), E9PG18 (E9PG18_HUMAN), A0A0A0MT39 (A0A0A0MT39_HUMAN), Q86V90 (Q86V90_HUMAN), H9KVD2 (H9KVD2_HUMAN), E9PHB6 (E9PHB6_HUMAN)
Relationships Total Number of functionally related compound(s) : 254
Total Number of Articles : 567
Description

sodium voltage-gated channel alpha subunit 5

Gene Summary

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 have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022]

synonyms
  • sodium channel protein type 5 subunit alpha
  • cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit
  • sodium channel protein cardiac muscle subunit alpha
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Properties