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1型神经抗体说明书 英文名称  Anti-NF1/Neurofibromin 1

中文名称  1型神经抗体说明书 

别    名 DKFZp686J1293; FLJ21220; Neurofibromatosis Noonan syndrome; Neurofibromatosis related protein NF 1; Neurofibromatosis related protein NF1; neurofibromatosis type I; Neurofibromatosis-related protein NF-1; Neurofibromin 1; Neurofibromin truncated; Neurofibromin1; NF 1; NF; NF1; NF1_HUMAN; NFNS; Type 1 Neurofibromatosis; von Recklinghausen disease neurofibromin; von Recklinghausen disease related protein VRNF; VRNF; WATS; Watson disease related protein WSS; Watson syndrome; WSS.

产品属性：

浓    度  1mg/1ml

规 格  0.1ml/100μg 0.2ml/200μg

抗体来源  Rabbit

克隆类型   polyclonal

交叉反应   Human, Mouse, Rat, Dog, Horse, Rabbit

产品类型   一抗  

研究领域     细胞生物 免疫学 染色质和核信号 神经生物学 信号转导 表观遗传学 G蛋白信号

蛋白分子量  predicted molecular weight: 147/319kDa 

性    状   Lyophilized or Liquid

免 疫 原  KLH conjugated synthetic peptide derived from human Neurofibromin 1 C-terminus

亚    型  IgG

纯化方法   affinity purified by Protein A

储 存 液   0.01M PBS, pH 7.4 with 10 mg/ml BSA and 0.1% Sodium azide

1型神经抗体说明书 产品应用   WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=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.  

保存条件  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. 

Important Note  This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 

产品介绍 This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008].

Function : Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.DISEASE : Neurofibromatosis 1 (NF1) [MIM:162200]: A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. Note=The disease is caused by mutations affecting the gene represented in this entry.Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The disease is caused by mutations affecting the gene represented in this entry.Watson syndrome (WS) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis. Note=The disease is caused by mutations affecting the gene represented in this entry.Familial spinal neurofibromatosis (FSNF) [MIM:162210]: Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. Note=The disease is caused by mutations affecting the gene represented in this entry.Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]: Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. Note=The disease is caused by mutations affecting the gene represented in this entry.Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis.Similarity : Contains 1 CRAL-TRIO domain.Contains 1 Ras-GAP domain.Database links : UniProtKB/Swiss-Prot: P21359.2神经纤维素蛋白首先发现于神经细胞，是一种抑制蛋白，通过调控Ras基因控制异常细胞生长，并且在cAMP信号传导通路中起.神经Ⅰ型(neurofibromatosis type 1,NF1)是一种由紊乱引起的神经,属于常染色体显性遗传病，其为1/3500，主要表现为咖啡斑、神经、Lisch(虹膜错构瘤)等。每3，500个新生儿中就有一个是神经纤维细胞瘤I型患者，其临床表现为表皮或皮下多发性神经，良性多于恶性，常沿神经干分布。有时，神经会长大，或者发展到脑和脊髓，大约有一半以上患者。

实验流程：

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★1型神经抗体说明书 分子生物学：质粒抽提、PCR、Q-PCR、RT-PCR、分子生物学：基因合成、引物合成、基因测序、载体构建等

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