Label:
What is Neurofibromatosis 1?
Description:
NF1 is a large gene that encodes three slightly different neurofibromin proteins, found in nerve and muscle tissues. These proteins act as part of a cell's signalling pathway and help to regulate cell growth and repair. Mutations in the NF1 gene can disrupt the function or production of neurofibromin proteins, leading to tumor growth in bones and the peripheral nervous system.
Biological elements:
chromosome 17
Concepts precesses:
Tools & methods :