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STXBP2

19p13.3-p13.2 HGNC:11445 MIM.601717

Friday 29 April 2011

Several mammalian homologs of the C. elegans gene Unc18 have been identified, including STXBP2. These genes are conserved across species from yeast to man and are believed to take part in membrane-fusion processes.

Pathology

- germline mutations of STXBP2 in familial hemophagocytic lymphohistiocytosis (FHL5) (MIM.613101)

See also

- STXBPs

References

- Cetica, V., Santoro, A., Gilmour, K. C., Sieni, E., Beutel, K., Pende, D., Marcenaro, S., Koch, F., Grieve, S., Wheeler, R., Zhao, F., zur Stadt, U., Griffiths, G. M., Arico, M. STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. J. Med. Genet. 47: 595-600, 2010. [PubMed: 20798128]

- Cote, M., Menager, M. M., Burgess, A., Mahlaoui, N., Picard, C., Schaffner, C., Al-Manjomi, F., Al-Harbi, M., Alangari, A., Le Deist, F., Gennery, A. R., Prince, N., Cariou, A., Nitschke, P., Blank, U., El-Ghazali, G., Menasche, G., Latour, S., Fischer, A., de Saint Basile, G. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J. Clin. Invest. 119: 3765-3773, 2009. [PubMed: 19884660]

- zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve, S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G., Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G., Griffiths, G., Ehl, S., Hennies, H. C. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am. J. Hum. Genet. 85: 482-492, 2009. [PubMed: 19804848]