| Modification Notes |
Syntaxins, a family of proteins involved in the fusion of synaptic vesicles with the plasma membrane, display broad tissue distribution and contain C-terminal hydrophobic domains that direct them to their respective intracellular compartments. Syntaxin 11, also known as STX11, FHL4, HLH4 or HPLH4 is a 287 amino acid protein that contains one t-SNARE coiled-coil homology domain and localizes to the membrane of the trans-golgi network. Interacting with SNAP 23 and VAMP, Syntaxin 11 functions to regulate protein transport between the trans-golgi network and late endosomes. Defects in the gene encoding Syntaxin 11 are the cause of familial hemophagocytic lymphohistiocytosis type 4 (FHL4), a genetically heterogeneous autosomal recessive disorder that is characterized by fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, seizures, cranial nerve deficits and ataxia. |