Unc18-2 (STXBP2) Antibody – Rabbit Polyclonal

This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]

STXBP2: Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N- ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells. Defects in STXBP2 are the cause of familial hemophagocytic lymphohistiocytosis type 5 (FHL5). FHL5 is 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. Belongs to the STXBP/unc-18/SEC1 family. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 19p13.3-p13.2

Cellular Component: apical plasma membrane; azurophil granule; cytosol; plasma membrane; SNARE complex; specific granule

Molecular Function: protein binding; syntaxin-1 binding; syntaxin-3 binding

Biological Process: leukocyte mediated cytotoxicity; neutrophil degranulation; protein transport; regulation of mast cell degranulation; vesicle docking during exocytosis

Disease: Hemophagocytic Lymphohistiocytosis, Familial, 5