| 產(chǎn)品編號 | bs-6764R-BF647 |
| 英文名稱 | Rabbit Anti-NPC1/BF647 Conjugated antibody |
| 中文名稱 | BF647標(biāo)記的尼曼匹克C1前體蛋白抗體 |
| 別 名 | Niemann Pick C1; Niemann Pick C1 protein precursor; Niemann Pick disease, type C1; Niemann-Pick C1 protein; NPC; NPC1; NPC1_HUMAN. |
| 規(guī)格價格 | 100ul/2980元 購買 大包裝/詢價 |
| 說 明 書 | 100ul |
| 研究領(lǐng)域 | 心血管 細(xì)胞生物 神經(jīng)生物學(xué) |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | Mouse, (predicted: Human, Rat, Chicken, Pig, Guinea Pig, ) |
| 產(chǎn)品應(yīng)用 | ICC=1:50-200 IF=1:50-200
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 138kDa |
| 性 狀 | Lyophilized or Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from mo NPC1/Niemann Pick C1 |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 儲 存 液 | 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. |
| 保存條件 | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
| 產(chǎn)品介紹 |
background: This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]. Function: Involved in the intracellular trafficking of cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals. Subunit: Interacts with TMEM97. Subcellular Location: Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Post-translational modifications: Glycosylated. DISEASE: Defects in NPC1 are the cause of Niemann-Pick disease type C1 (NPC1) [MIM:257220]. A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected. Similarity: Belongs to the patched family. Contains 1 SSD (sterol-sensing) domain. Database links: Entrez Gene: 4864 Human Entrez Gene: 18145 Mouse Omim: 607623 Human SwissProt: O15118 Human SwissProt: O35604 Mouse Unigene: 464779 Human Unigene: 715623 Human Unigene: 3484 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 尼曼匹克病-神經(jīng)磷沉積性疾病，主要是由于神經(jīng)磷脂酶（sphingomyelinase）缺乏所致，神經(jīng)鞘磷脂酶（sphingomyelinase）缺乏致神經(jīng)鞘磷脂代謝障礙。導(dǎo)致后者蓄積在單核巨噬細(xì)胞系統(tǒng)內(nèi)，出現(xiàn)肝、脾腫大，中樞神經(jīng)系統(tǒng)退行性變。神經(jīng)鞘磷脂是由N-酰鞘氨醇與一個分子的磷酸膽鹼（phosphocholine）在C1、部位連接而成，神經(jīng)鞘磷脂來源于各種細(xì)胞膜和紅細(xì)胞基質(zhì)等。在細(xì)胞代謝衰老過程中被巨噬細(xì)胞吞噬，神經(jīng)磷脂酶缺少后，全身神經(jīng)鞘磷脂代謝紊亂，神經(jīng)磷脂沉積在單核-巨噬細(xì)胞系統(tǒng)和神經(jīng)組織細(xì)胞中。 |
