Neurofibromatosis. By Nilesh Jambhekar. What is Neurofibromatosis? The basics:. Autosomal-dominant genetic disorder. Is a type of cancer of the nervous system that can occur in all 3 germ layers and any organ system.
By Nilesh Jambhekar
-Neurofibromatosis 2(NF2) 
-is on chromosome 17 on the long arm (q) at position 11.2
-has 60 exons and over 8500 base pairs
-encodes for Neurofibromin
A young boy
There are many known mutations of Neurofibromin but the most serious involve the mutations of the above 3 residues (Glutamic acid, Lysine, and especially Arganine).
-Is on Chromosome 22 at location q 11-13.1.
-Encodes a protein called MERLIN (Moesin-Ezrin-Radixin-Like Protein)
- Causes a variety of symptoms related to the ear: deafness, ear ringing, and difficulty keeping balance.
- Less common form of NF1 with an
occurrence of ~1/(30000-40000) births in the U.S.
Fig 6 : Receptor Tyrosine Kinases and RAS. The pathway involves the GRB2, a key target for MERLIN.
Fig : The MERLIN-RAS pathway is filled with chains of Kinases and feedback loops.
Fig 9 : H-RAS
In complex with GCP (an analog of GDP)
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