STXBP2

STXBP2, also known as Munc18-2, is a protein encoded by the STXBP2 gene in humans. This gene is a member of the Sec1/Munc18-like (SM) protein family, which are essential regulators of the exocyst complex, a group of proteins involved in the tethering of transport vesicles to the plasma membrane before fusion. STXBP2 plays a critical role in the SNARE-mediated membrane fusion process, which is fundamental for various cellular functions, including neurotransmitter release, hormone secretion, and the formation of new cellular structures.

The STXBP2 protein is particularly important in polarized cells and has been implicated in the function of tight junctions, which are cell-cell adhesion structures that regulate paracellular transport. Mutations in the STXBP2 gene have been linked to severe human diseases. One such condition is Familial Hemophagocytic Lymphohistiocytosis type 5 (FHL5), a rare and life-threatening disorder characterized by excessive activation of immune cells. Other associated conditions include congenital myasthenic syndromes, which affect neuromuscular transmission. Research into STXBP2 continues to elucidate its precise mechanisms of action and its involvement in both health and disease.