UNC13D Antibody, FITC conjugated

說明書

中文名稱：

UNC13D兔多克隆抗體, FITC偶聯
貨號：

CSB-PA758222LC01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) UNC13D Polyclonal antibody
Uniprot No.：

Q70J99
基因名：

UNC13D
別名：

FHL 3 antibody; FHL3 antibody; FLJ00067 antibody; HLH 3 antibody; HLH3 antibody; HPLH 3 antibody; HPLH3 antibody; Jinx antibody; Munc13 4 antibody; Munc13-4 antibody; Protein unc 13 homolog D antibody; Protein unc-13 homolog D antibody; UN13D_HUMAN antibody; Unc 13 homolog D antibody; UNC 13D antibody; Unc-13 homolog D (C. elegans) antibody; Unc13 homolog D (C elegans) antibody; Unc13 homolog D antibody; UNC13, C. elegans, homolog of, D antibody; UNC13D antibody; Unc13h4 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Protein unc-13 homolog D protein (7-172AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells.
基因功能參考文獻：
1. The results of the present study indicate that Munc132 may be an essential regulator of basal MUC5AC exocytosis, while Munc134 appears to be a Munc13 protein subtype that may to be sensitive to hNE stimulation during airway MUC5AC hypersecretion. PMID: 29767240
2. Gene-corrected human Munc13-4-deficient CD8+ T cells can efficiently restrict EBV-driven lymphoproliferation in immunodeficient mice PMID: 27799161
3. Findings indicate 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 shows 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 defined mutation in the UNC13D (c.175G>C; p.Ala59Pro) was found in an asymptomatic heterozygote father and his homozygous daughter who had hemophagocytic lymphohistiocytosis. PMID: 26377049
6. Munc13-4 conveys Ca(2+) sensitivity to platelet SNARE-mediated membrane fusion and reveal a potential mechanism by which Munc13-4 bridges and stabilizes apposing membranes destined for fusion. PMID: 26637270
7. Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis. PMID: 25980904
8. Data (including data from studies in knockout mice) suggest Munc13-4 binds to Rab11 and regulates trafficking of Rab11-containing vesicles; Munc13-4 appears to regulate final steps of Rab11-positive vesicle docking at plasma membrane in exocytosis. PMID: 26637356
9. These studies highlight the need for RAB27A sequencing in patients with FHL with normal pigmentation and identify a critical binding site for Munc13-4 on Rab27a, revealing the molecular basis of this interaction. PMID: 25312756
10. These data support an important role for Munc13-4 in human platelet degranulation PMID: 25573973
11. Data indicate that 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, and the IVS13+5G>A mutation that 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. 8 new mutations were also found. PMID: 24470399
14. 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 the 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. 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. 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) caused by deep intronic mutation and inversion in UNC13D. PMID: 21931115
26. study reports recurrent fetal hydrops caused by familial hemophagocytic lymphohistiocytosis with Munc13-4 mutation PMID: 21646258
27. 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 MUNC13-4 gene mutation or reduced natural killer cell function prior to onset of childhood leukemia. PMID: 21370424
29. rRecurrent splicing mutations in UNC13D gene is associated with familial hemophagocytic lymphohistiocytosis. PMID: 20015888
30. The data suggest an association between MUNC13-4 polymorphisms and macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis. PMID: 18759271
31. HMunc13-4 mutations were shown to cause familial hemophagocytic lymphohistiocytosis; HMunc13-4 is essential for the priming step of cytolytic granules secretion preceding vesicle membrane fusion. PMID: 14622600
32. Rab27 regulates the 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 analysed for mutations in STX11, PRF1, and UNC13D. PMID: 16278825
34. CD107a surface expression has a role in Munc13-4 defect in familial hemophagocytic lymphohistiocytosis PMID: 16778144
35. 12 novel and 4 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. 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
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相關疾病：

Familial hemophagocytic lymphohistiocytosis 3 (FHL3)
亞細胞定位：

Cytoplasm. Membrane; Peripheral membrane protein. Late endosome. Recycling endosome. Lysosome. Note=Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles.
蛋白家族：

Unc-13 family
組織特異性：

Expressed at high levels in spleen, thymus and leukocytes. Also expressed in lung and placenta, and at very low levels in brain, heart, skeletal muscle and kidney. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells.
數據庫鏈接：

HGNC: 23147

OMIM: 608897

KEGG: hsa:201294

STRING: 9606.ENSP00000207549

UniGene: Hs.41045

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