Testing Data
Rabbit Neurofibromin Antibody | anti-NF1 antibody
Rabbit anti Neurofibromin antibody
ELISA: 0.01-0.1 ug/ml
Immunoprecipitation: 2-5 ug/ml
Testing Data
Testing Data
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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. Ref.15
Involvement in disease: Defects in NF1 are the cause of neurofibromatosis type 1 (NF1) [
MIM:162200]; also known as von Recklinghausen syndrome. 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. Ref.7 Ref.34 Ref.37 Ref.38 Ref.39 Ref.40 Ref.41 Ref.42 Ref.43 Ref.44 Ref.45 Ref.46 Ref.47 Ref.48 Ref.49 Ref.50 Ref.51 Ref.53 Ref.55 Ref.56 Ref.58 Ref.59 Ref.60 Ref.61 Ref.62 Ref.63 Ref.64 Ref.65Defects 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 (FSNF) [
MIM:162210]. Familial spinal NF is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. Ref.54Defects 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. Ref.57 Ref.66 Ref.68Defects in NF1 may be a cause of colorectal cancer (CRC) [
MIM:114500].
Sequence similarities: Contains 1 CRAL-TRIO domain.Contains 1 Ras-GAP domain.
Caution: Was originally (Ref.41) thought to be associated with LEOPARD (LS), an autosomal dominant syndrome.
RNA editing: Edited at position 1306.The stop codon (UGA) at position 1306 is created by RNA editing. Various levels of RNA editing occurs in peripheral nerve-sheath tumor samples (PNSTs) from patients with NF1. Preferentially observed in transcripts containing exon 23A. Ref.16 Ref.17
Sequence caution: The sequence AAA59923.1 differs from that shown. Reason: Erroneous initiation.
Research Articles on NF1
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Product Notes
The NF1 nf1 (Catalog #AAA462087) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Rabbit anti Neurofibromin antibody reacts with Human, Rat, Mouse, Bovine, Canine and may cross-react with other species as described in the data sheet. AAA Biotech's Neurofibromin can be used in a range of immunoassay formats including, but not limited to, ELISA, Western Blot. Western Blot: 0.1-1 ug/ml ELISA: 0.01-0.1 ug/ml Immunoprecipitation: 2-5 ug/ml. Researchers should empirically determine the suitability of the NF1 nf1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "Neurofibromin, Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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