SNTA1 Antibody – Mouse Monoclonal

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]

SNTA1: Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5- bisphosphate. Defects in SNTA1 are the cause of long QT syndrome type 12 (LQT12). A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Belongs to the syntrophin family.

Protein type: Lipid-binding; Membrane protein, peripheral; Adaptor/scaffold

Chromosomal Location of Human Ortholog: 20q11.2

Cellular Component: postsynaptic membrane; cytoskeleton; protein complex; cytoplasm; syntrophin complex; intracellular; neuromuscular junction; cell junction; lateral plasma membrane; sarcolemma

Molecular Function: calmodulin binding; protein binding; sodium channel regulator activity; nitric-oxide synthase binding; actin binding; ATPase binding; PDZ domain binding

Biological Process: regulation of vasoconstriction by circulating norepinephrine; muscle contraction; regulation of heart rate; neuromuscular junction development

Disease: Long Qt Syndrome 12