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.
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Protein Aliases: Munc18-2; MUSEC1; Protein unc-18 homolog 2; Protein unc-18 homolog B; syntaxin binding protein Munc18-2; Syntaxin-binding protein 2; unc-18 homolog 2; Unc-18B; Unc18-2
Gene Aliases: C79054; FHL5; Hunc18b; Munc-18-2; Munc-18b; MUNC18-2; Munc18b; muSec1; pp10122; STXBP2; Sxtbp2; Sxtp2; UNC18-2; UNC18B
Molecular Function: membrane trafficking regulatory protein