DISEASES

Disease-gene associations mined from literature

Literature associating SCN5A and intrinsic cardiomyopathy

SCN5A [ENSP00000328968]

Sodium channel protein type 5 subunit alpha; This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1309946, PubMed:21447824, PubMed:25370050, PubMed:23420830, PubMed:23085483, PubMed:26279430, PubMed:26392562, PubMed:26776555). It is a tetrodotoxin-resistant Na(+) channel isoform . This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels . ECO:0000269|PubMed:19074138, ECO:0000269|PubMed:21447824, ECO:0000269|PubMed:23085483, ECO:0000269|PubMed:23420830, ECO:0000269|PubMed:24167619, ECO:0000269|PubMed:25370050, ECO:0000269|PubMed:26279430, ECO:0000269|PubMed:26392562,; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.5/SCN5A subfamily.

Synonyms:  SCN5A,  SCN5Ap,  hSCN5A,  A0A0A0MT39,  A3EY21 ...

Linkouts:  STRING  Pharos  UniProt  OMIM