antibody

Rabbit anti Neurofibromin antibody

MBS462087

0.1 mg

320 USD

polyclonal

rabbit

nonconjugated

human, mouse, rat, dog

western blot, ELISA

Antibody

Rabbit anti Neurofibromin antibody

Neurofibromin

Rabbit anti-Neurofibromin; NF1; Neurofibormin-1; 2; 3

neurofibromin; Neurofibromin; neurofibromin; OTTHUMP00000163771; OTTHUMP00000163772; OTTHUMP00000166089; neurofibromatosis-related protein NF-1; neurofibromin 1; Neurofibromatosis-related protein NF-1

NF1; NF1; WSS; NFNS; VRNF; FLJ21220; DKFZp686J1293

NF1_HUMAN

Rabbit

Human, Rat, Mouse, Bovine, Canine

This antibody recognizes ~240 kDa of human neurofibromin protein.This antibody also reacts with mouse, rat, chicken, bovine and dog. The other species are not tested.

The Rabbit IgG is purified by Epitope Affinity Purification.

This affinity purified antibody is supplied in sterile phosphatebuffered saline (pH7.2) containing antibody stabilizer

Size: 100 ug/200 ul

The antibodies are stable for 12 months from date of receipt when stored at -20 degree C to -70 degree C. The antibodies can be stored at 2 degree C -8 degree C for three month without detectable loss of activity. Avoid repeated freezing-thawing cycles.

ELISA, Western Blot

Western Blot: 0.1-1 ug/ml. ELISA: 0.01-0.1 ug/ml. Immunoprecipitation: 2-5 ug/ml

Antigen Preparation: A synthetic peptide corresponding to the C terminus of human neurofibromin. This sequence is identical among human, rat, mouse, chicken, bovine and dog.

Positive Control: Mouse brain

The neurofibromatosis type 1 (NF1) tumor suppressor (neurofibromin) is thought to play crucial roles in cellular Ras- and cAMP-dependent kinase (PKA)-associated signals. The absence of or alteration of the neurofibromin protein may lead to neurofibromatosis disease. Recently, a cellular neurofibromin-associating protein, NG,NG-dimethylarginine dimethylaminohydrolase (DDAH)has been identified as a cellular NO/NOS regulator which increases PKA phosphorylation of native neurofibromin in a dose-dependent manner. The PKA accessibility of neurofibromin regulated via DDAH interaction may modulate the cellular function of neurofibromin that is implicated in NF1-related pathogenesis.

Tokuo H. Phosphorylation of neurofibromin by cAMP-dependent protein kinase is regulated via a cellular association of NG,NG-dimethylarginine dimethylaminohydrolase. FEBS Letters, Volume 494, Issue 1 - 2, Pages 48 - 53

292354

P21359

240 kDa

ATF-2 Transcription Factor Network Pathway (138006); FOXA2 And FOXA3 Transcription Factor Networks Pathway (137911); MAPK Signaling Pathway (198779); MAPK Signaling Pathway (83048); MAPK Signaling Pathway (456); Syndecan-2-mediated Signaling Events Pathway (138031)

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]

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.

0.1 mg

320 USD