基因名:
STXBP2
产品别名:
FHL5; Hunc18b; MUNC18-2; UNC18-2; UNC18B; pp10122; STXBP2; syntaxin binding protein 2; syntaxin binding protein 2; syntaxin-binding protein 2; protein unc-18 homolog B; unc-18B; 突触融合蛋白结合蛋白2;
背景信息:
This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]