Literature associating STXBP2 and selective immunoglobulin deficiency disease
Syntaxin binding protein 2; Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N- ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells.
Synonyms: STXBP2, STXBP2p, hSTXBP2, M0QZ54, M0R0D4 ...