Anti-STXBP2 polyclonal antibody (DPABH-16699)
Rabbit Anti-Human STXBP2 (aa 310-524) polyclonal antibody for WB, ICC/IF
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Recombinant fragment, corresponding to a region within amino acids 310-524 of Human STXBP2 (AAH02869).
WB: 1/500 - 1/3,000; ICC/IF:1/200.
*Suggested working dilutions are given as a guide only. It is recommended that the user titrates the product for use in their own experiment using appropriate negative and positive controls.
STXBP2; syntaxin binding protein 2; FHL5; UNC18B; Hunc18b; UNC18-2
STXBP2 (Syntaxin Binding Protein 2) is a Protein Coding gene. Diseases associated with STXBP2 include hemophagocytic lymphohistiocytosis, familial, 5 and hemophagocytic lymphohistiocytosis. Among its related pathways are Transcription_CREM signaling in testis and Insulin Signaling. GO annotations related to this gene include syntaxin-1 binding and syntaxin-3 binding. An important paralog of this gene is STXBP1. 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.
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. Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Syntaxin-binding protein 2 is a protein that in humans is encoded by the STXBP2 gene. 0The function about STXBP2 antigen include protein binding; syntaxin-1 binding; syntaxin-3 binding.
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Cetica, V; Santoro, A; et al. STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. JOURNAL OF MEDICAL GENETICS 47:595-600(2010).
Rohr, J; Beutel, K; et al. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. HAEMATOLOGICA-THE HEMATOLOGY JOURNAL 95:2080-2087(2010).
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