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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.
Munc13-4 conveys Ca(2 (show CA2 Proteins)+) sensitivity to platelet SNARE (show NAPA Proteins)-mediated membrane fusion and reveal a potential mechanism by which Munc13-4 bridges and stabilizes apposing membranes destined for fusion.
Synergistic defects of UNC13D and AP3B1 (show AP3B1 Proteins) leading to adult hemophagocytic lymphohistiocytosis.
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.
These studies highlight the need for RAB27A (show RAB27A Proteins) sequencing in patients with FHL (show FHL1 Proteins) with normal pigmentation and identify a critical binding site for Munc13-4 on Rab27a (show RAB27A Proteins), revealing the molecular basis of this interaction.
These data support an important role for Munc13-4 in human platelet degranulation
Data indicate that Munc13-4 is highly expressed in differentiated NK cells and effector CD8 (show CD8A Proteins)(+) T lymphocytes.
this is the first report of HLH in association with EVC (show EVC Proteins) syndrome, and the IVS13+5G>A mutation that we believe is causative of EVC (show EVC Proteins) in our patient is also unreported.
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.
Data show that all but one patient with atypical familial hemophagocytic lymphohistiocytosis carried at least one splice-site mutation in UNC13D or STXBP2 (show STXBP2 Proteins).
Munc13-4 is a syntaxin 7 (show STX7 Proteins) binding protein and an important regulator of late endosome maturation.
Munc13-4 conveys Ca(2 (show CA2 Proteins)+) sensitivity to platelet SNARE (show VTI1B Proteins)-mediated membrane fusion and reveal a potential mechanism by which Munc13-4 bridges and stabilizes apposing membranes destined for fusion.
Letter: data argue for a critical role of Munc13-4 and therefore also dense granule secretion in infarct progression but not in safeguarding the brain vasculature in acute ischemia.
Munc13-4 isoform is functionaly redundant in cytotoxic T lymphocytes.
Data suggest that Rab27a (show RAB27A Proteins) and Rab27b (show RAB27B Proteins) regulate distinct steps in the bone marrow-derived mast cells (BMMC) degranulation pathway, with Rab27a (show RAB27A Proteins)/Mlph (show MLPH Proteins)/MyoVa (show MYO5A Proteins) regulating cortical actin stability upstream of Rab27a/b (show RAB27A Proteins)/Munc13-4-dependent granule exocytosis.
MUNC13-4 is essential for phagosomal maturation and bacterial killing in neutrophils.
data indicate that Rab27a (show RAB27A Proteins) but not Munc13-4 plays an important role in neutrophil recruitment to liver and LPS (show TLR4 Proteins)-induced death during endotoxemia
Munc13-4 restricts motility of Rab27a (show RAB27A Proteins)-expressing vesicles to facilitate lipopolysaccharide-induced priming of exocytosis.
importance of Munc13-4 in platelets: it is a limiting factor required for platelet secretion and hemostasis
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.
, unc-13 homolog D (C. elegans)
, protein unc-13 homolog D
, protein unc-13 homolog D-like
, unc-13 homolog D
, likely ortholog of H. sapiens unc-13 homolog D (UNC13D)