SNTA1
Description
The SNTA1 (syntrophin alpha 1) is a protein-coding gene located on chromosome 20.
Alpha-1-syntrophin is a protein encoded by the SNTA1 gene in humans. It is a signal transducing adaptor protein that acts as a scaffold for various signaling molecules. It contains a PDZ domain, two Pleckstrin homology domains, and a 'syntrophin unique' domain. Alpha-1-syntrophin is associated with dystrophin and dystrophin-related proteins, which are crucial for muscle function. The PDZ domain of syntrophin-α1(SNTA1) interacts with the C-terminal domain of murine cardiac voltage-gated sodium channels (SkM2), potentially affecting ion channel activity and leading to Long QT syndrome. Alpha-1-syntrophin interacts with Dystrophin, Nav1.1 and Nav1.5, and Aquaporin 4.
Alpha-1-syntrophin acts as an adapter protein, influencing the placement of various membrane proteins within cells. It potentially connects receptors to the actin cytoskeleton and the extracellular matrix through the dystrophin glycoprotein complex. Alpha-1-syntrophin is crucial for synapse development and the organization of UTRN and acetylcholine receptors at the neuromuscular junction. It binds to phosphatidylinositol 4,5-bisphosphate.
SNTA1 is also known as LQT12, SNT1, TACIP1, dJ1187J4.5.
