Neurofibromin (Ps2741) (NF1) Antibody – Rabbit

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.