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品种反应性 主要应用 宿主 格式 抗体类型 M, H WB Rb Purified Polyclonal Antibody 描述 产品目录编号 07-730 品牌系列 Upstate
商名 - Upstate
描述 Anti-Neurofibromin (NF-1) Antibody 产品信息 格式 Purified 应用 应用 This Anti-Neurofibromin (NF-1) Antibody is validated for use in WB for the detection of Neurofibromin (NF-1). 主要应用 - Western Blotting
生物信息 免疫原品种 synthetic peptide corresponding to amino acids 2787-2802 (CNSGRTRHGSASQVQK) of human Neurofibromin (NF-1) 宿主 Rabbit 特异性 Neurofibromin (NF-1) 同种型 IgG 品种反应性 MouseHuman 抗体类型 Polyclonal Antibody Entrez基因编号 - NM_001042492.1
- NM_000267.2
Entrez基因汇总 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. 基因符号 - VRNF
- neurofibromin
- Neurofibromin
- DKFZp686J1293
- WSS
- NFNS
- NF1
纯化方法 Protein A purfied UniProt编号 - P21359
UniProt汇总 FUNCTION: SwissProt: P21359 # Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.
SIZE: 2839 amino acids; 319372 Da
DISEASE: SwissProt: P21359 # Defects in NF1 are the cause of type 1 neurofibromatosis (NF1) [MIM:162200]; also called Von Recklinghausen syndrome. NF1 is one of the most frequent autosomal dominant diseases (about 1 in 3000). It exhibits full penetrance by the age of 5 years and high mutation rate with 30 to 50% of NF1 patients representing a new mutation. Among the many clinical features of NF1 are patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, peripheral nervous system associated tumors and fibromatous skin tumors. & Defects in NF1 are a cause of juvenile myelomonocytic leukemia (JMML) [MIM:607785]. JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. Germline mutations of NF1 account for the association of JMML with type 1 neurofibromatosis (NF1). & Defects in NF1 are the cause of Watson syndrome (WS) [MIM:193520]. WS is characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. WS is considered as an atypical form of NF1. & Defects in NF1 are a cause of familial spinal neurofibromatosis (spinal NF) [MIM:162210]. Familial spinal NF is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. & Defects in NF1 are a cause of neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]. NFNS is 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. & Defects in NF1 may be a cause of colorectal cancer (CRC) [MIM:114500].
SIMILARITY: SwissProt: P21359 ## Contains 1 CRAL-TRIO domain. & Contains 1 Ras-GAP domain.产品使用声明 质量保证 Routinely evaluated by immunoblot in RIPA lysates from A431 cells 使用声明 - Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
储存和货运信息 存储条件 2 years at -20°C from date of shipment 包装信息 数量 200 µg
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