UNC13D Antibody

1. Our research indicates that Munc132 may be a key regulator of basal MUC5AC exocytosis, while Munc134 appears to be a subtype of Munc13 protein that is sensitive to hNE stimulation during airway MUC5AC hypersecretion. PMID: 29767240
2. Gene-corrected human Munc13-4-deficient CD8+ T cells effectively suppress EBV-driven lymphoproliferation in immunodeficient mice. PMID: 27799161
3. Our findings suggest that Munc13-4 supports acute WPB exocytosis by tethering WPBs to the plasma membrane via AnxA2-S100A10. PMID: 28450451
4. Analysis of sudden infant death syndrome brains revealed downregulation of MyD88 in tissue from SIDS brains, as well as the downregulation of the genes encoding CCL3 and UNC13 in the liver. PMID: 26959483
5. A newly identified mutation in the UNC13D gene (c.175G>C; p.Ala59Pro) was detected in an asymptomatic heterozygote father and his homozygous daughter, who presented with hemophagocytic lymphohistiocytosis. PMID: 26377049
6. Munc13-4 confers calcium sensitivity to platelet SNARE-mediated membrane fusion. Our research reveals a potential mechanism by which Munc13-4 bridges and stabilizes opposing membranes destined for fusion. PMID: 26637270
7. Synergistic defects in UNC13D and AP3B1 genes can lead to adult hemophagocytic lymphohistiocytosis. PMID: 25980904
8. Data, including studies in knockout mice, suggest that Munc13-4 binds to Rab11 and regulates trafficking of Rab11-containing vesicles. Munc13-4 appears to regulate the final stages of Rab11-positive vesicle docking at the plasma membrane during exocytosis. PMID: 26637356
9. These studies emphasize the need for RAB27A sequencing in patients with FHL exhibiting normal pigmentation. They also identify a critical binding site for Munc13-4 on Rab27a, elucidating the molecular basis of this interaction. PMID: 25312756
10. Our data strongly support a significant role for Munc13-4 in human platelet degranulation. PMID: 25573973
11. Munc13-4 is highly expressed in differentiated NK cells and effector CD8(+) T lymphocytes. PMID: 24842371
12. This is the first report of HLH in association with EVC syndrome. The IVS13+5G>A mutation, which we believe is causative of EVC in our patient, is also unreported. PMID: 23924873
13. The prevalence of a 253-kb inversion and two deep intronic mutations, c.118-308C > T and c.118-307G > A, in UNC13D was determined in 1709 North American patients with type 3 hemophagocytic lymphohistiocytosis. Eight new mutations were also identified. PMID: 24470399
14. Our data show that all but one patient with atypical familial hemophagocytic lymphohistiocytosis carried at least one splice-site mutation in UNC13D or STXBP2. PMID: 20823128
15. These data suggest that rare loss-of-function variations of UND13D are risk factors for autoimmune lymphoproliferative syndrome development. PMID: 23840885
16. This patient carried mutations in FAS, XIAP, and UNC13D genes inherited from his mother who had rheumatoid arthritis. UNC13D is involved in familial hemophagocytic lymphohistiocytosis. PMID: 24043286
17. Defects in cargo trafficking caused by mutations in RAB27A and UNC13D genes, encoding Rab27a and its effector Munc13-4, cause severe immunodeficiencies in humans. (Review) PMID: 23810987
18. Novel deep intronic and missense UNC13D mutations are reported in familial haemophagocytic lymphohistiocytosis type 3. PMID: 23672263
19. The deep intronic mutation UNC13D:c.118-308C>T accounts for the majority of previously missing mutations and is the most frequent mutation in familial hemophagocytic lymphohistiocytosis type 3 in Korea. PMID: 23180437
20. Our study reports that Munc13-4 bound Ca(2+) and restored Ca(2+)-dependent granule exocytosis to permeable cells (platelets, mast, and neuroendocrine cells) dependent on putative Ca(2+)-binding residues in C2A and C2B. PMID: 22508512
21. Data indicate that Munc13-4 reinternalization is required for the maintenance of an intracellular pool that is functional to guarantee the serial killing potential. PMID: 22271450
22. A novel Dutch founder mutation leads to severe early onset of FHL3 due to misfolding and degradation of munc13-4(1-899). PMID: 21755595
23. Seven novel mutations in PRF1, UNC13D, and XIAP were identified in Chinese EBV-HLH patients. Only a fraction of Chinese children with EBV-HLH have genetic defects in PRF1, UNC13D, and XIAP. PMID: 21674762
24. Missense and splice-site sequence variants in PRF1, MUNC13-4, and STXBP2 were found in 25 (14%) of the adult patients. The A91V-PRF1 genotype was found in 12 of these patients (48%). PMID: 21881043
25. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) is caused by deep intronic mutation and inversion in UNC13D. PMID: 21931115
26. Our study reports recurrent fetal hydrops caused by familial hemophagocytic lymphohistiocytosis with a Munc13-4 mutation. PMID: 21646258
27. Our data show that point mutations in the binding motif of munc13-4 have severely impaired rab27a binding, allowing dissection of rab27a requirements in munc13-4 function. PMID: 21693760
28. Hemophagocytic lymphohistiocytosis with a MUNC13-4 gene mutation or reduced natural killer cell function prior to the onset of childhood leukemia. PMID: 21370424
29. Recurrent splicing mutations in the UNC13D gene are associated with familial hemophagocytic lymphohistiocytosis. PMID: 20015888
30. Our data suggest an association between MUNC13-4 polymorphisms and macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis. PMID: 18759271
31. Munc13-4 mutations have been shown to cause familial hemophagocytic lymphohistiocytosis. Munc13-4 is essential for the priming step of cytolytic granule secretion, preceding vesicle membrane fusion. PMID: 14622600
32. Rab27 regulates dense core granule secretion in platelets by employing its binding protein, Munc13-4. PMID: 14699162
33. A large group of 63 unrelated patients with Familial hemophagocytic lymphohistiocytosis (FHL) was analyzed for mutations in STX11, PRF1, and UNC13D. PMID: 16278825
34. CD107a surface expression plays a role in Munc13-4 defect in familial hemophagocytic lymphohistiocytosis. PMID: 16778144
35. Twelve novel and four known Munc13-4 mutations spread throughout the gene were found in haemophagocytic lymphohistiocytosis patients. PMID: 16825436
36. Biallelic UNC13D mutations were found in 18% of the PRF1/STX11-negative familial haemophagocytic lymphohistiocytosis families. PMID: 17993578
37. A girl with systemic juvenile arthritis without macrophage activation syndrome was found to have compound heterozygous mutations of UNC13D and reduced NK cell cytotoxic function. PMID: 18240215
38. The genes PRF1, GZMB, UNC13D, and Rab27a involved in hemophagocytic lymphohistiocytosis do not confer a significant risk of association with systemic-onset juvenile idiopathic arthritis. PMID: 18311812
39. Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations. PMID: 18432499
40. A role for Munc13-4 as a component of the secretory machinery in neutrophils. PMID: 18453599
41. UNC13D mutations leading to splicing errors represent the majority of mutations observed in familial hemophagocytic lymphohistiocytosis. PMID: 18492689
42. Mutated in type III hemophagocytic lymphohistiocytosis, a severe inflammatory disease of infectious etiology with fatal outcome. PMID: 19120489
43. UNC13D mutations are associated with primary hemophagocytic lymphohistiocytosis. PMID: 19131769
44. Rab27a or Munc13-4 recruitment to lytic granules is preferentially regulated by different receptor signals, demonstrating that individual target cell ligands regulate discrete molecular events for lytic granule maturation. PMID: 19704116

Show More

Hide All

HGNC: 23147

OMIM: 608897

KEGG: hsa:201294

STRING: 9606.ENSP00000207549

UniGene: Hs.41045