Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Syntaxin-11

The STX11 gene encodes a protein which is involved in fusion of vesicles during transport. Mutations result in autosomal recessive familial hemophagocytic lymphohistiocytosis 4.

Genetests:

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

Related Diseases:

Familial hemophagocytic lymphohistiocytosis 4
STX11

References:

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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Update: Aug. 14, 2020
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