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STXBP2 Gene Polymorphism is associated with Hemophagocytic Lymphohistocytosis.
Mutation in STXBP2 gene is associated with hemophagocytic lymphohistiocytosis.
Data show that Munc18b overexpression increased fusion of not only newcomer secretory granule (SG), but also predocked SGs (show FBN1 Proteins) in type-2 diabetes (T2D) human and Goto-Kakizaki Rat Islets.
two novel mutations of STXBP2: c.184A>G and c.577A>C. c.184A>G (p.Asn62Asp) was located within a highly conserved region of the STXBP2 protein and predicted to be deleterious.
red blood cells express Munc18-2 and that erythroid cells from patients with FHL-5 exhibit intrinsic defects caused by STXBP2/Munc18-2 mutations.
Munc18-2(R65Q) and Munc18-2(R65W) retain the ability to interact with and stabilize STX11 (show STX11 Proteins). However, presence of Munc18-2(R65Q/W) in patient-derived lymphocytes and forced expression in control CTLs and NK cells diminishes degranulation and cytotoxicity.
Data show that all but one patient with atypical familial hemophagocytic lymphohistiocytosis carried at least one splice-site mutation in UNC13D (show UNC13D Proteins) or STXBP2.
Munc18-2 binds the N-terminal peptide of Stx11 (show STX11 Proteins) with a ~20-fold higher affinity than Stx3 (show STX3 Proteins), suggesting a potential role in selective binding.
We report that FHL-5 neutrophils have a profound defect in granule mobilization, resulting in inadequate bacterial killing, in particular, of gram-negative Escherichia coli, but not of Staphylococcus aureus.
Mutations in STXBP2 do not only affect cytotoxic T lymphocytes but also cause changes in the intestinal and renal epithelium resulting in severe, osmotic diarrhea and renal proximal tubular dysfunction
Munc18b as an essential gene that is a limiting component of the exocytic machinery of epithelial cells and mast cell.
Munc18-1 (show STXBP1 Proteins) and Munc18-2 display distinct subcellular compartmentalization and can coordinate the insulin (show INS Proteins) exocytotic process differently as a consequence of the actual [Ca(2 (show CA2 Proteins)+)](i).
This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
syntaxin-binding protein 2
, protein unc-18 homolog B
, protein unc-18 homolog 2
, syntaxin binding protein Munc18-2
, unc-18 homolog 2
, Sec1 homolog