UNC50 encodes a transmembrane protein localized to the inner nuclear membrane and Golgi apparatus that plays a critical role in acetylcholine receptor (AChR) trafficking and cholinergic neuromuscular transmission 1. The protein functions as a regulator of cell surface expression of neuronal nicotinic receptors by recruiting GBF1, an ADP ribosylation factor-guanine nucleotide exchange factor, to facilitate early endosome-to-Golgi trafficking 2. Beyond neuromuscular function, UNC50 regulates epidermal growth factor receptor (EGFR) trafficking and promotes hepatocellular carcinoma progression through effects on EGFR pathway signaling and cell cycle entry 3. Biallelic loss-of-function variants in UNC50 cause congenital myasthenia syndrome and arthrogryposis multiplex congenita (AMC), developmental neuromuscular disorders characterized by joint contractures and reduced fetal movement 145. Disease-causing mutations impair AChR expression at the neuromuscular junction, preventing essential cholinergic transmission during muscle development 1. Additionally, UNC50 has been identified as a shared genetic locus between cardiovascular-kidney-metabolic syndrome and sarcopenia through epigenetic mechanisms 6. The gene's involvement in multiple cellular trafficking pathways and developmental processes makes it an important regulator of both normal neuromuscular development and disease pathogenesis.