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STXBP2

Official Full Name
syntaxin binding protein 2
Organism
Homo sapiens
GeneID
6813
Background
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]
Synonyms
FHL5; UNC18B; Hunc18b; UNC18-2; pp10122; unc-18B; MUNC18-2;

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