Syntaxin 11

Alternative Names

  • STX11
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OMIM Number

605014

Gene Map Locus
6q24.2

Description

The STX11 gene encodes a member of the syntaxin family (syntaxin 11) that localizes mainly between the endoplasmic reticulum and the Golgi.  This protein plays a role in intracellular trafficking and targeting and fusion of intracellular transport vesicles.  Specifically, it plays a role in binding the vesicles to the cell membranes.  Within the immune system, STX11 has been shown to be vital for normal NK cell and CD8+ T cell cytotoxic granule exocytosis, and has also been implicated in neutrophil granule exocytosis. 

Defects in this protein have been associated with Familial Hemophagocytic Lymphohistiocytosis Type-4 (FHL4), characterized by proliferation and infiltration of hyperactivated T cells, natural killer cells, B cells, and macrophages (histiocytes) manifesting as acute illness with prolonged fever, hepatosplenomegaly, and cytopenias.  Recent studies also suggest that mutations in STX11 may play a role in the pathogenesis of peripheral T-cell lymphomas.  

Molecular Genetics

The STX11 gene, located on 6q24.2, consists of one coding exon and covers a genomic interval of approximately 52 kb.  The encoded protein comprises 287 amino acids with a molecular mass of 33 kDa.  Mutations in the STX11 gene have been identified in patients with FHLH type 4, and these mutations seem to be greatly restricted to patients of Turkish/Kurdish descent.  These mutations include a large 19.2 kb genomic deletion spanning the entire coding region of exon 2, and a nonsense mutation resulted in a premature stop codon in the C-terminal end of the protein.  

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Elyamany et al., (2016) conducted a study between January 2005 and December 2014 in Saudi Arabia to analyze the data of Familial Hemophagocytic Lymphohistiocytosis (FHL) patients.  Mutations in the STX11 gene were identified in five out of 12 patients with FHL.   

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