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Product Name Munc 13-4 Chinese Name UNC13D蛋白抗体 Alias FHL 3; FHL3; FLJ00067; HLH 3; HLH3; HPLH 3; HPLH3; Jinx; Munc13 4; Munc13-4; Protein unc 13 homolog D; Protein unc-13 homolog D; UN13D_HUMAN; Unc 13 homolog D; UNC 13D; Unc-13 homolog D (C. elegans); Unc13 homolog D (C elegans); Unc13 homolog D; UNC13, C. elegans, homolog of, D; UNC13D; Unc13h4 Research Area Cell biology immunology t-lymphocyte Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, Pig, Cow, Horse, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 123kDa Cellular localization cytoplasmic The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human Munc 13-4: 201-300/1090 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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. [provided by RefSeq, Jul 2008]
Function:
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.
Subcellular Location:
Cytoplasm. Membrane. Late endosome. Recycling endosome. Lysosome. Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles.
Tissue Specificity:
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.
DISEASE:
Defects in UNC13D are the cause of hemophagocytic lymphohistiocytosis familial type 3 (FHL3) [MIM:608898]; also known as HPLH3. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a non-malignant infiltration of macrophages and activated T lymphocytes in lymph nodes, spleen, and other organs is also found.
Similarity:
Belongs to the unc-13 family.
Contains 2 C2 domains.
Contains 1 MHD1 (MUNC13 homology domain 1) domain.
Contains 1 MHD2 (MUNC13 homology domain 2) domain.
SWISS:
Q70J99
Gene ID:
201294
Database links:Entrez Gene: 201294 Human
Entrez Gene: 70450 Mouse
Entrez Gene: 704431 Rhesus monkey
Omim: 608897 Human
SwissProt: Q70J99 Human
SwissProt: B2RUP2 Mouse
Unigene: 41045 Human
Unigene: 259460 Mouse
Unigene: 198919 Rat
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