STX11 Antibody – Rabbit Polyclonal

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, Jul 2008]

STX11: SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. Defects in STX11 are the cause of familial hemophagocytic lymphohistiocytosis type 4 (FHL4); also known as HPLH4. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a non-malignant infiltration of macrophages and activated T-lymphocytes in lymph nodes, spleen, and other organs is also found. Belongs to the syntaxin family.

Chromosomal Location of Human Ortholog: 6q24.2

Cellular Component: endomembrane system; Golgi apparatus; integral to membrane; plasma membrane; SNARE complex; synaptic vesicle

Molecular Function: protein binding; SNAP receptor activity; SNARE binding

Biological Process: cytotoxic T cell degranulation; intracellular protein transport; natural killer cell degranulation; neutrophil degranulation; synaptic vesicle fusion to presynaptic membrane; vesicle docking

Disease: Hemophagocytic Lymphohistiocytosis, Familial, 4