{"symbol":"SNTA1","synonyms":["SNT1","LQT12","DJ1187J4.5","TACIP1"],"name":"syntrophin, alpha 1","description":"Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]","ncbiEntrezGeneId":6640,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/6640","proteins":[{"symbol":"SNTA1_HUMAN","href":"/api/1.0/protein/SNTA1_HUMAN"}],"hgncRootFamilies":[]}