STX11 Gene

The STX11 gene (STX11 stands for "syntaxin 11") is a protein-coding gene located on chromosome 6q24.2.

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.

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.

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