UNC13D Antibody (monoclonal) (M05)
Mouse monoclonal antibody raised against a partial recombinant UNC13D.
|Application ||WB, E|
|Calculated MW||123282 Da|
|Other Names||Protein unc-13 homolog D, Munc13-4, UNC13D|
|Target/Specificity||UNC13D (NP_954712.1, 2 a.a. ~ 100 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||UNC13D Antibody (monoclonal) (M05) is for research use only and not for use in diagnostic or therapeutic procedures.|
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This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder.
UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. Yoon HS, et al. Haematologica, 2010 Apr. PMID 20015888.Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. Wood SM, et al. Blood, 2009 Nov 5. PMID 19704116.Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children. Gurgey A, et al. J Pediatr Hematol Oncol, 2008 Dec. PMID 19131769.Microbe sensing, positive feedback loops, and the pathogenesis of inflammatory diseases. Beutler B. Immunol Rev, 2009 Jan. PMID 19120489.Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Zhang K, et al. Arthritis Rheum, 2008 Sep. PMID 18759271.
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