All are true about NF-1 gene except: (AIIMS Nov 2014)
|A||It is a tumor suppressor gene|
|B||Encodes for a protein Neurofibromin which is a GAP|
|C||Located on chromosome 17q11|
|D||Neurofibromin facilitates the conversion of the RAS from an inactive to active stage|
|E||Associated with optic nerve gliomas, Lisch nodules, café-au-lait spots|
a. NF1 is a tumor suppressor gene which encodes for a protein Neurofibromin, which is a GAP (GTPase activating protein) located on chromosome 17q11.
b. Neurofibromin facilitates the conversion of the RAS from an active to inactive stage.
c. Thus leading to the formation of inactivated RAS and inhibits the cell cycle progression by inhibiting signal transduction.
d. NF- 1 is associated with optic nerve gliomas, neurofibromas, Lisch nodules, café-au-lait spots