NF1

Official symbol

NF1

Official full name

neurofibromin 1

Gene ID

4763

Gene type

-

Other name

NFNS,VRNF,WSS

Gene location

Gene introduction

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]. Neurofibromin 1 (NF1) is a gene that codes for a tumor suppressor protein. NF1 suppresses the function of the Ras protein, which promotes cell growth and differentiation. In cancer, the tumor suppression function of the gene is impaired, leading to conditions favorable for uncontrolled cell growth. NF1 mutations have been observed in multiple cancer types, including myelodysplastic syndromes.

Cancer pathway

The main pathways: Binding of a growth factor (e.g., EGF, HGF) to a receptor tyrosine kinase activates the receptor tyrosine kinase and typically causes the dimerization of the two receptor monomers. The receptors are activated by phosphorylation within their kinase domains. Once the receptor is turned on, numerous downstream pathways are activated including MAP kinase signaling, JAK/STAT signaling, and PI3K/AKT1/MTOR signaling. Specific nodes in the pathway that are therapeutically actionable are noted. Click here to open a larger version of this image in a new window.

Related to cancer

NF1 syndrome is a germline condition resulting in predisposition to several types of cancer, in addition to other effects. Cancer types associated with NF1 syndrome include glioma, melanoma, lung cancer, ovarian cancer, breast cancer, colorectal cancer, hematologic malignancies, and other cancers.

Alteration in cancer

Related drugs in cancer