STX11
STX11 is a gene that encodes a member of the syntaxin family. Syntaxins are involved in the docking of synaptic vesicles at the presynaptic membrane. The encoded protein is a key component of the endosomal SNARE complex and may play a role in intracellular trafficking. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 4.
Function[edit | edit source]
STX11 is a member of the syntaxin family. Syntaxins are proteins that are involved in the docking of synaptic vesicles at the presynaptic membrane. The protein encoded by STX11 is a key component of the endosomal SNARE complex, which is a group of proteins that play a crucial role in intracellular trafficking.
Clinical significance[edit | edit source]
Mutations in the STX11 gene are associated with familial hemophagocytic lymphohistiocytosis type 4 (FHL4). FHL4 is a rare, life-threatening immune disorder that is usually diagnosed in infancy or early childhood. The disorder is characterized by fever, enlarged liver or spleen, low blood counts, and neurological abnormalities.
See also[edit | edit source]
- Syntaxin
- Synaptic vesicle
- Presynaptic membrane
- Endosomal SNARE complex
- Intracellular trafficking
- Familial hemophagocytic lymphohistiocytosis
References[edit | edit source]
External links[edit | edit source]
STX11 Resources | ||
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Contributors: Prab R. Tumpati, MD