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Rabbit Anti-NF1/BF555 Conjugated antibody (bs-4140R-BF555)
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說 明 書: 100ul  
100ul/2980.00元
大包裝/詢價
產(chǎn)品編號 bs-4140R-BF555
英文名稱 Rabbit Anti-NF1/BF555 Conjugated antibody
中文名稱 BF555標(biāo)記的1型神經(jīng)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.  
規(guī)格價格 100ul/2980元 購買        大包裝/詢價
說 明 書 100ul  
研究領(lǐng)域 腫瘤  細(xì)胞生物  免疫學(xué)  染色質(zhì)和核信號  神經(jīng)生物學(xué)  信號轉(zhuǎn)導(dǎo)  表觀遺傳學(xué)  G蛋白信號  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) Human, Mouse,  (predicted: Rat, Dog, Horse, Rabbit, )
產(chǎn)品應(yīng)用 IF=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 147/319kDa
性    狀 Lyophilized or Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human Neurofibromin 1 C-terminus
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 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:

Entrez Gene: 4763 Human

Entrez Gene: 18015 Mouse

Entrez Gene: 24592 Rat

Omim: 613113 Human

SwissProt: P21359 Human

SwissProt: Q04690 Mouse

SwissProt: P97526 Rat

Unigene: 113577 Human

Unigene: 255596 Mouse

Unigene: 10686 Rat



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

神經(jīng)纖維素蛋白首先發(fā)現(xiàn)于神經(jīng)細(xì)胞,是一種腫瘤抑制蛋白,通過調(diào)控Ras基因控制異常細(xì)胞生長,并且在cAMP信號傳導(dǎo)通路中起調(diào)節(jié)作用.
神經(jīng)纖維瘤Ⅰ型(neurofibromatosis type 1,NF1)是一種由內(nèi)分泌紊亂引起的神經(jīng)纖維瘤,屬于常染色體顯性遺傳病,其發(fā)病率為1/3500,主要表現(xiàn)為咖啡斑、神經(jīng)纖維瘤、Lisch結(jié)節(jié)(虹膜錯構(gòu)瘤)等。每3,500個新生兒中就有一個是神經(jīng)纖維細(xì)胞瘤I型患者,其臨床表現(xiàn)為表皮或皮下多發(fā)性神經(jīng)纖維瘤,良性多于惡性,常沿神經(jīng)干分布。有時,神經(jīng)纖維瘤會長大,或者發(fā)展到腦和脊髓,大約有一半以上患者智力低下。
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