Syntrophin alpha 1 Rabbit Polyclonal Antibody

Function

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.

Background References

1. Hebel T. et. al. Lipid abnormalities in alpha/beta2-syntrophin null mice are independent from ABCA1. Biochim Biophys Acta. 2015 May;1851(5):527-36.

2. Williams JC. et. al. The sarcolemmal calcium pump, alpha-1 syntrophin, and neuronal nitric-oxide synthase are parts of a macromolecular protein complex. J Biol Chem. 2006 Aug 18;281(33):23341-8.

Sequence Similarity

Belongs to the syntrophin family.

Tissue Specificity

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

Post-translational Modification

Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity).

Subcellular Location

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane.

UNIPROT

SwissProt: Q13424 Human

SwissProt: Q61234 Mouse

Entrez Gene: 362242 Rat

Synonyms