產品貨號 :  mlR4140

英文名稱 :  NF1

中文名稱 :  1型神經纖維瘤抗體

別    名 :  Neurofibromin 1; 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.  

研究領域 :  腫瘤  細胞生物  免疫學  染色質和核信號  神經生物學  信號轉導  表觀遺傳學  G蛋白信號  

抗體來源 :  Rabbit

克隆類型 :  Polyclonal

交叉反應 :   Human, Mouse, Rat, Dog, Horse, Rabbit,

產品應用 :  ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 IF=1:100-500 （石蠟切片需做抗原修復）

not yet tested in other applications.

optimal dilutions/concentrations should be determined by the end user.

分 子 量 :  147/319kDa

細胞定位 :  細胞核

性    狀 :  Lyophilized or Liquid

濃    度 :  1mg/ml

免 疫 原 :  KLH conjugated synthetic peptide derived from human Neurofibromin 1:2701-2839/2839

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.

PubMed :  PubMed

產品介紹background:

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.

SWISS:

P21359

Gene ID:

4763

Important Note:

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

神經纖維素蛋白首先發現于神經細胞，是一種腫瘤抑制蛋白，通過調控Ras基因控制異常細胞生長，并且在cAMP信號傳導通路中起調節作用.

神經纖維瘤Ⅰ型(neurofibromatosis type 1,NF1)是一種由內分泌紊亂引起的神經纖維瘤,屬于常染色體顯性遺傳病，其發病率為1/3500，主要表現為咖啡斑、神經纖維瘤、Lisch結節(虹膜錯構瘤)等。每3，500個新生兒中就有一個是神經纖維細胞瘤I型患者，其臨床表現為表皮或皮下多發性神經纖維瘤，良性多于惡性，常沿神經干分布。有時，神經纖維瘤會長大，或者發展到腦和脊髓，大約有一半以上患者智力低下。

產品圖片