4cca: Difference between revisions
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==About this Structure== | ==About this Structure== | ||
[[4cca]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/ | [[4cca]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4CCA OCA]. | ||
==Reference== | ==Reference== | ||
<references group="xtra"/><references/> | <references group="xtra"/><references/> | ||
[[Category: | [[Category: Human]] | ||
[[Category: Arico, M.]] | [[Category: Arico, M.]] | ||
[[Category: Ehl, S.]] | [[Category: Ehl, S.]] | ||
Revision as of 06:20, 13 November 2013
Structure of human Munc18-2
Disease
[STXB2_HUMAN] Familial hemophagocytic lymphohistiocytosis. The disease is caused by mutations affecting the gene represented in this entry.
Function
[STXB2_HUMAN] Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells.[1] [2]
About this Structure
4cca is a 1 chain structure with sequence from Human. Full crystallographic information is available from OCA.
Reference
- ↑ 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 HC. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet. 2009 Oct;85(4):482-92. doi: 10.1016/j.ajhg.2009.09.005. PMID:19804848 doi:https://dx.doi.org/10.1016/j.ajhg.2009.09.005
- ↑ Cote M, Menager MM, Burgess A, Mahlaoui N, Picard C, Schaffner C, Al-Manjomi F, Al-Harbi M, Alangari A, Le Deist F, Gennery AR, 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. 2009 Dec;119(12):3765-73. doi: 10.1172/JCI40732. Epub 2009 Nov 2. PMID:19884660 doi:https://dx.doi.org/10.1172/JCI40732
