Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The STX11 gene encodes a protein which is involved in fusion of vesicles during transport. Mutations result in autosomal recessive familial hemophagocytic lymphohistiocytosis 4.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 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. 
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| 2. |
Advani RJ et al. (1998) Seven novel mammalian SNARE proteins localize to distinct membrane compartments.
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| 3. |
Tang BL et al. (1998) Syntaxin 11: a member of the syntaxin family without a carboxyl terminal transmembrane domain.
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| 4. |
Valdez AC et al. (1999) Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network.
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| 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.
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| 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.
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| 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.
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| 8. |
Müller ML et al. (2014) An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.
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