Syntaxin-11
Das STX11-Gen kodiert ein Protein, welches bei der Fusion von Transportvesikeln ein Rolle spielt. Mutationen führen zur autosomal rezessiven familiären hämophygozytischen Lymphohistiozytose 4.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Zur Stadt U et al. (2006) Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
|
2. |
Advani RJ et al. (1998) Seven novel mammalian SNARE proteins localize to distinct membrane compartments.
|
3. |
Tang BL et al. (1998) Syntaxin 11: a member of the syntaxin family without a carboxyl terminal transmembrane domain.
|
4. |
Valdez AC et al. (1999) Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network.
|
5. |
zur Stadt U et al. (2005) Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
|
6. |
Yamamoto K et al. (2005) Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people.
|
7. |
Rudd E et al. (2006) Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.
|
8. |
Müller ML et al. (2014) An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.
|
Update: 14. August 2020