NCBI Description
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]
Uniprot Description
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: azurophil granule; cytosol; plasma membrane; SNARE complex; specific granule
Molecular Function: protein binding; syntaxin-3 binding
Biological Process: leukocyte mediated cytotoxicity; neutrophil degranulation; regulation of mast cell degranulation
Disease: Hemophagocytic Lymphohistiocytosis, Familial, 5
Product Notes
The STXBP2 stxbp2 (Catalog #
AAA7045500) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The STXBP2 Antibody reacts with Human, Mouse and may cross-react with other species as described in the data sheet. AAA Biotech's STXBP2 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). Researchers should empirically determine the suitability of the STXBP2 stxbp2 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process.
It is sometimes possible for the material contained within the vial of
"STXBP2, Polyclonal Antibody" to become dispersed throughout the inside of
the vial, particularly around the seal of said vial, during shipment and storage. We always
suggest centrifuging these vials
to consolidate all of the liquid away from the lid and to the bottom of the vial prior to
opening. Please be advised that
certain products may require dry ice for shipping and that, if this is the case, an
additional dry ice fee may also be
required.
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absolutely not suitable for use in any
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industry standard. AAA Biotech
and its authorized distribution partners reserve the right to refuse to fulfill any order if
we have any indication that a
purchaser may be intending to use a product outside of our accepted criteria.
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