(Syntrophin, alpha 1 (Dystrophin-Associated Protein A1, 59kDa, Acidic Component) (SNTA1))
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].
Fernández-Larrea, Merlos-Suárez, Ureña, Baselga, Arribas: "A role for a PDZ protein in the early secretory pathway for the targeting of proTGF-alpha to the cell surface." in: Molecular cell, Vol. 3, Issue 4, pp. 423-33, (1999) (PubMed).