Neurofibromatosis type 1 (NF1) is a genetic condition that causes changes in skin pigment and tumors on nerve tissue. Skin changes include flat, light brown spots and freckles in the armpits and groin.

NF1 Gene — What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by a change in the NF1 gene, which is found on chromosome 17. Some people with NF1 have signs and symptoms only on one part of their body. This is called mosaic (or segmental) NF1.

Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves ( oligodendrocytes and Schwann cells).

Mar 30, 2025 · NF1 (Neurofibromin 1) is a Protein Coding gene. Diseases associated with NF1 include Neurofibromatosis-Noonan Syndrome and Neurofibromatosis, Type I . Among its related pathways are MAPK family signaling cascades and Prolactin Signaling .

Aug 13, 2023 · NF-1 is an autosomal dominant disorder. The gene for NF-1 is located on chromosome 17 and encodes a gene product called neurofibromin. Neurofibromin is widely expressed in a variety of tissues. Neurofibromin, a GTPase-activating protein, normally inhibits the rat sarcoma (RAS) pathway.

Neurofibromatosis type 1 (NF1) is a genetic condition that affects the skin, the skeleton and the part of the nervous system outside the brain and spinal cord peripheral nervous system). The main signs and symptoms of NF1 include dark colored spots on the skin (café-au-lait spots), benign growths along the nerves (neurofibromas), and freckles ...

The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many types of cells, including nerve cells and specialized cells called oligodendrocytes and Schwann cells that surround nerves.

Mar 8, 2025 · 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.

Neurofibromatosis type 1 (NF1), also called von Recklinghausen disease or peripheral neurofibromatosis, is a common autosomal dominant disorder characterised by multiple neurofibromas, café au lait spots, and Lisch nodules of the iris, with a variable clinical expression.

Feb 13, 2025 · Neurofibromatosis type 1 (von Recklinghausen disease) is a genetic condition where tumors grow on skin, nerves, and bones. It is associated with a malignant peripheral nerve sheath tumor (MPNST) and an increased risk of other cancers.