| 產(chǎn)品編號 | bs-17379R-BF647 |
| 英文名稱 | Rabbit Anti-HPS1/BF647 Conjugated antibody |
| 中文名稱 | BF647標(biāo)記的Hermansky-Pudlak綜合征蛋白1抗體 |
| 別 名 | Hermansky Pudlak syndrome 1 protein; Hermansky Pudlak syndrome gene; Hermansky Pudlak syndrome type 1; Hermansky-Pudlak syndrome 1; Hermansky-Pudlak syndrome 1 protein; HPS; HPS1; HPS1_HUMAN; MGC5277. |
| 規(guī)格價格 | 100ul/2980元 購買 大包裝/詢價 |
| 說 明 書 | 100ul |
| 研究領(lǐng)域 | 細(xì)胞生物 信號轉(zhuǎn)導(dǎo) 轉(zhuǎn)運蛋白 |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | (predicted: Human, Mouse, Rat, Cow, Horse, ) |
| 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 | 79kDa |
| 性 狀 | Lyophilized or Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human HPS1 |
| 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 protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008] Function: Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting. Tissue Specificity: Ubiquitous. DISEASE: Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1) [MIM:203300]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Database links: Entrez Gene: 3257 Human Entrez Gene: 192236 Mouse Omim: 604982 Human SwissProt: Q92902 Human SwissProt: O08983 Mouse Unigene: 404568 Human Unigene: 218381 Mouse Unigene: 17691 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. Hermansky－Pudlak綜合征（簡稱HPS），是常染色體隱性遺傳病，可導(dǎo)致出血時間延長、白化病、溶酶體膠質(zhì)樣沉積等病狀。患者通常于30～50歲之間死于肺纖維化、出血、結(jié)腸炎等嚴(yán)重并發(fā)癥。目前對該病仍缺乏有效的治療辦法。通過對人、小鼠、酵母等的研究發(fā)現(xiàn)，這是一種單基因病，但涉及到多個不同基因的突變?；蛲蛔兒螅D(zhuǎn)運途徑受阻，表現(xiàn)為黑色素體、溶酶體、血小板致密體等多種亞細(xì)胞器的生物合成或功能同時受累的病理改變。對這些HPS基因的克隆既有利于進(jìn)一步闡明發(fā)病機(jī)制，也有利于建立一系列基因診斷和產(chǎn)前診斷方法，為將來的HPS基因治療提供理論依據(jù)。 |
