NF1
The NF1 gene encodes neurofibromin, a cytoplasmic protein that regulates intracellular processes and is associated with Neurofibromatosis type I (NF1).
Associated Diseases
Neurofibromatosis type I (NF1)
Did you know
Neurofibromatosis type I (NF1) I s one of the most frequent Mendelian diseases, with estimated minimum prevalence ranging from 1 in 3,000 to 1 in 6,000 people worldwide.
Additional info
The NF1 gene also known as neurofibromin encodes a cytoplasmic protein expressed in neurons, Schwann cells, oligodendrocytes, and leukocytes. It plays a crucial role in regulating intracellular processes, including the RAS-cyclic AMP pathway and ERK/MAP kinase cascade.
