Alpha-1-syntrophin

Alpha-1-syntrophin (SNTA1) is an adapter protein that organizes subcellular localization of membrane proteins, particularly linking receptors to the actin cytoskeleton and extracellular matrix through the dystrophin glycoprotein complex (UniProt: Q13424). The protein plays important roles in synapse formation and organization of acetylcholine receptors at the neuromuscular junction, and binds phosphatidylinositol 4,5-bisphosphate. While UniProt documents association with Long QT syndrome 12 (MIM 612955), a cardiac arrhythmia disorder, the protein's neurological functions suggest potential relevance to brain development and synaptic organization.

In Alzheimer's disease, alpha-1-syntrophin is upregulated in human post-mortem AD brain tissue compared to age-matched controls (Chaparral AD proteomics). The mean log2 fold-change is +0.5656 based on TMT-labeled proteomic analysis across four subcellular fractions (P2, P3, S2, S3) using data-dependent acquisition mass spectrometry. This upregulation suggests potential involvement in compensatory synaptic reorganization or stress responses associated with AD pathology.