Definition of Neurofibromin. Meaning of Neurofibromin. Synonyms of Neurofibromin

- Neurofibromin (NF-1) is a protein that is encoded in humans, in the NF1 gene. NF1 is located on chromosome 17. Neurofibromin, a GTPase-activating protein...
- the mutation of neurofibromin 1 (NF-1). NF-1 is a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed...
- exhibit biallelic inactivation of the NF1 gene that codes for the protein neurofibromin. This protein is responsible for regulating the RAS-mediated cell growth...
- Merlin (also called neurofibromin 2 or schwannomin) is a cytoskeletal protein. In humans, it is a tumor suppressor protein involved in neurofibromatosis...
- chromosome 17 (17q11.2). This gene encodes a cytoplasmic protein known the neurofibromin, which functions as a tumor suppressor and therefore serves as a signal...
- Neurofibromatosis type II, an inherited disease Merlin (protein) or Neurofibromin 2, a cytoskeletal protein Nitrogen difluoride a chemical radical with...
- patients. Neurofibromatosis is caused by point mutations in the Neurofibromin 1 or Neurofibromin 2 gene. Sickle-cell anemia is caused by a point mutation in...
- 000 live births. It is caused by autosomal dominant mutations in the Neurofibromin 1 gene. Clinical manifestations are variable but may include hyperpigmented...
- McCormick F, Simanshu DK, et al. (October 2019). "KRAS G13D sensitivity to neurofibromin-mediated GTP hydrolysis". Proceedings of the National Academy of Sciences...
- in 17–60% of cases; the RB1 gene is deleted in 60% of cases; and the Neurofibromin 1 gene is lost by inactivating mutations in 8% of cases or in rarer...