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STXBP2 gene

Known as: Hunc18b, MUNC18-2, syntaxin binding protein 2 
This gene is involved in intracellular vesicle trafficking.
National Institutes of Health

Related topics

Related topics

6 relations
ExocytosisHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5Homo sapiensLigand Binding

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Author response for "Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1 , UNC13D , STX11 , STXBP2 , SH2D1A , and XIAP "
2017
2017
4160Identification of STXBP2 as a novel susceptibility locus for myocardial infarction in Japanese individuals by an exome-wide association study
2017
2017
Retrospective analysis of 60 patients with Hemophagocytic Lymphohistiocytosis (HLH): focus on genetic variants associated with secondary/late onset disease
Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of uncontrolled cytotoxic T-lymphocyte and macrophage activation… 
2016
2016
RECURRENT ATYPICAL MAS IN A PATIENT WITH STILL'S DISEASE AND HETEROZYGOUS MUTATIONS IN BOTH STXBP2 AND UNC13D
2016
2016
A Novel Compound Heterozygous Stxbp2 Mutation in a Case with Familial Hemophagocytic Lymphohistiocytosis
Familial or primary hemophagocytic lymphohistiocytosis (FHLH) is a rare genetic disease with autosomal recessive inheritance… 
2015
2015
FUNCTIONAL ASSAYS FOR THE DIAGNOSIS OF PRIMARY DEFECTS IN LYMPHOCYTE CYTOTOXICITY
Cytotoxic lymphocytes encompass natural killer (NK) cells and cytotoxic T lymphocytes (CTL). These cells detect and kill virus… 
Review
2015
Review
2015
Demographic Characteristics , Causes , Clinical Features , laboratory Variables , and Outcomes of 52 Children With Hemophagocytic lymphohistiocytosis
Unauthorized reproduction of this article is prohibited Pediatric Critical Care Medicine www.pccmjournal.org e165 Objectives… 
2013
2013
Table 6. [Selected STXBP2 Allelic Variants].
2012
2012
REGULATION OF PLATELET EXOCTOSIS AND ITS ROLE IN DISEASES
OF DISSERTATION REGULATION OF PLATELET EXOCTOSIS AND ITS ROLE IN DISEASES In addition to their role in hemostasis, platelets… 
2012
2012
Genetic, cellular and clinical studies of hemophagocytic lymphohistiocytosis
Hemophagocytic lymphohistocytosis (HLH) is a life-threatening hyperinflammatory condition characterized by fever, cytopenia… 
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