STX11

This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq]

Full Name

syntaxin 11

Function

SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network.

Biological Process

Biological Process exocytosisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process intracellular protein transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process membrane fusionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process synaptic vesicle fusion to presynaptic active zone membraneManual Assertion Based On ExperimentIBA:GO_Central
Biological Process vesicle dockingManual Assertion Based On ExperimentIBA:GO_Central
Biological Process vesicle fusionManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Membrane
Golgi apparatus, trans-Golgi network membrane

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.