UNC13D蛋白抗体
规格：1mg/1ml
英文名： Munc 13-4
别名： 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);
分子量： 123kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Munc 13-
交叉反应：Human, Dog, Pig, Rhesus monkey
细胞定位：细胞浆 细胞膜
UNC13D蛋白抗体产品介绍：background: 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. UNC13D蛋白抗体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: UNC13D蛋白抗体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. Gene ID: 201294 Database links: Entrez Gene: 201294 Human Entrez Gene: 70450 Mouse Entrez Gene: 192177 Rat Entrez Gene: 704431 Rhesus monkey Omim: 608897 Human SwissProt: Q70J99 Human SwissProt: B2RUP2 Mouse SwissProt: Q9R189 Rat Unigene: 41045 Human Unigene: 259460 Mouse Unigene: 198919 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
UNC13D蛋白抗体研究领域：细胞生物 **学 t-**细胞
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid