STXBP2 Gene

The STXBP2 gene (STXBP2 stands for "Syntaxin Binding Protein 2 is a protein-coding gene located on chromosome 19p13.2. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.

The STXBP2 gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein, syntaxin binding protein 2, is involved in intracellular transport, control of soluble NSF attachment protein receptor (SNARE) complex formation, and release of cytotoxic granules by natural killer cells. E thus contributes to the machinery of granule exocytosis through interaction with SNARE proteins. These regulate membrane fusion. Furthermore, STXBP2 regulates the exocytosis of cytotoxic granules in natural killer cells.

Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis 5.

1. Arico M et al (2002) Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression. Brit J Haemat 119: 180-188.
2. Chiapparini L et al (2011) Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss (sic) diagnosis. Neurol Sci 32: 473-477.
3. Clementi R et al (2002) Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. (Letter) Blood 100: 2266-2267.
4. Janka GE et al (2004) Modern management of children with haemophagocytic lymphohistiocytosis. Brit J Haemat 124: 4-14.
5. Kletzel M et al (1986) Chromosome abnormalities in familial hemophagocytic lymphohistiocytosis. Cancer 57: 2153-2157.