Rabbit anti-Human SNTA1 Polyclonal Antibody

Uniprot Id

Q13424

Target Species

Human

Target Name

SNTA1

Target Full Name

Alpha-1-syntrophin

Target Function

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.

Target Involvement

Long QT syndrome 12 (LQT12)

Target Subcellular Location

Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cell junction. Cytoplasm, cytoskeleton.

Target Protein Families

Syntrophin family

Target Tissue Specificity

High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.

Target Synonyms

59 kDa dystrophin-associated protein A1 acidic component 1; Acidic alpha 1 syntrophin; Alpha 1 syntrophin; Alpha-1-syntrophin; dJ1187J4.5; Dystrophin associated protein A1 59kDa acidic component; LQT12; OTTHUMP00000030650; Pro-TGF-alpha cytoplasmic domain-interacting protein 1; SNT1; Snta1; SNTA1_HUMAN; Syntrophin 1; Syntrophin-1; TACIP1

Target Background

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.