The STX11 gene (STX11 stands for "syntaxin 11") is a protein-coding gene located on chromosome 6q24.2.
STX11 Gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
The STX11 gene encodes a member of the syntaxin family. Syntaxins are involved in the alignment and fusion of intracellular transport vesicles. The encoded protein syntaxin 11 regulates protein transport between late endosomes and the trans-Golgi network.
Clinical pictureThis section has been translated automatically.
Mutations in the STX11 gene are associated with familial hemophagocytotic lymphohistiocytosis 4, a rare autosomal recessive syndrome characterized by massive infiltration of multiple organs by activated lymphocytes and macrophages. Clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and, less commonly, central nervous system involvement.
LiteratureThis section has been translated automatically.
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