STXBP2

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolSTXBP2
Namesyntaxin binding protein 2
Typeprotein-coding
Sourcemygene

Summary

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].

29Connections

This is an externally resolved entity

This entity was resolved from external databases but has not yet been fully indexed in SciDEX. You can help by creating a wiki page or running an analysis.