| 產(chǎn)品編號(hào) | bs-6007R-AP |
| 英文名稱(chēng) | Rabbit Anti-FLCN/AP Conjugated antibody |
| 中文名稱(chēng) | 堿性磷酸酶（AP）標(biāo)記的卵巢濾泡激素抗體（BHD綜合征） |
| 別 名 | BHD; BHD skin lesion fibrofolliculoma protein; Birt Hogg Dube syndrome protein; FLCL; Folliculin; FLCN_HUMAN. |
| 規(guī)格價(jià)格 | 100ul/2980元 購(gòu)買(mǎi) 大包裝/詢(xún)價(jià) |
| 說(shuō) 明 書(shū) | 100ul |
| 研究領(lǐng)域 | 腫瘤 細(xì)胞生物 免疫學(xué) |
| 抗體來(lái)源 | Rabbit |
| 克隆類(lèi)型 | Polyclonal |
| 交叉反應(yīng) | (predicted: Human, Mouse, Rat, Chicken, Dog, Cow, Horse, Sheep, ) |
| 產(chǎn)品應(yīng)用 | WB=1:50-200 IHC-P=1:50-200 IHC-F=1:50-200
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 64kDa |
| 性 狀 | Lyophilized or Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human FLCN/BHD |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 儲(chǔ) 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 is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in three transcript variants encoding different isoforms. Function: May play a role in the pathogenesis of an uncommon form of kidney cancer through its association with an inherited disorder of the hair follicle (fibrofolliculomas). May be a tumor suppressor. May be involved in colorectal tumorigenesis. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. Subunit: Interacts (via C-terminus) with FNIP1 and FNIP2 (via C-terminus). This mediates indirect interaction with the PRKAA1, PRKAB1 and PRKAG1 subunits of 5'-AMP-activated protein kinase. Subcellular Location: Cytoplasm. Nucleus. Note=Mainly localized in the nucleus. Co-localizes with FNIP1 and FNIP2 in the cytoplasm. Tissue Specificity: Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach. Post-translational modifications: Phosphorylated. Several different phosphorylated forms exist. DISEASE: Defects in FLCN are the cause of Birt-Hogg-Dube syndrome (BHD) [MIM:135150]. BHD is a rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of BHD skin lesions that also includes trichodiscomas and acrochordons. Onset of this dermatologic condition is invariably in adulthood. BHD is associated with a variety of histologic types of renal tumors, including chromophobe renal cell carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas are also seen in patients affected with this disease. The majority of mutations are predicted to prematurely terminate the protein. Defects in FLCN are in some cases a cause of primary spontaneous pneumothorax (PSP) [MIM:173600]. PSP is a condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose-dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X-linked recessive and autosomal recessive inheritance have also been suggested. Defects in FLCN may be a cause of renal cell carcinoma (RCC) [MIM:144700]. Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. Similarity: Belongs to the folliculin family. Database links: Entrez Gene: 454472 Chimpanzee Entrez Gene: 101136366 Gorilla Entrez Gene: 201163 Human Omim: 607273 Human SwissProt: Q8NFG4 Human Unigene: 31652 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. BHD綜合征（Birt-Hogg-Dube綜合征）是指：患者患有多發(fā)性纖維毛囊瘤，并伴發(fā)軟垂疣、膠原瘤、脂肪瘤和(或)口腔纖維瘤。是一種顯性遺傳綜合征，有報(bào)告BHD患者可伴發(fā)髓樣癌、結(jié)腸癌和腎細(xì)胞癌。 BHD綜合征，主要為纖維毛囊瘤約2～4mm大小，皮膚色丘疹，可單個(gè)存在，但常見(jiàn)為多發(fā)性，散在分布于顏面、軀干和四肢。另外可伴發(fā)軟垂疣、膠原瘤、脂肪瘤和(或)口腔纖維瘤。 |
