STX11
Function
SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network.
Involvement in disease
Hemophagocytic lymphohistiocytosis, familial, 4
FHL4
A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the syntaxin family.
Cellular localization
- Membrane
- Peripheral membrane protein
- Golgi apparatus
- trans-Golgi network membrane
- Peripheral membrane protein
Alternative names
Syntaxin-11, STX11