What gene does NF2 affect?
NF2 is caused by a mutation in the NF2 gene. The NF2 gene regulates (encodes for) the production of a protein known as merlin/schwannomin that plays a role in suppressing the development of certain tumors (tumor suppressor).
Is NF2 a tumor suppressor gene?
Merlin is the protein encoded by the tumor suppressor gene, NF2, located on chromosome 22q12. Deletion or loss-of-function mutation of NF2 causes Neurofibromatosis type 2 (NF2), a nervous system tumor-forming disease (1–3).
What protein is encoded by the NF2 gene?
The NF2 gene encodes for the tumor suppressor protein merlin (69 kDa). Merlin indirectly regulates cellular pathways involved in tumorigenesis, including cell to cell adhesion, cytoskeletal architecture, and membrane protein organization (2–4).
How does neurofibromatosis type 2 affect the body?
Neurofibromatosis type 2 (NF2) causes noncancerous tumors to grow on nerves. In adults, the tumors often affect the auditory nerves, causing hearing problems. In children, tumors are often found on the brain or spinal cord.
What is the life expectancy of a person with NF2?
Tumours that develop inside the brain and spinal cord can place a strain on the body and shorten life expectancy. The average life expectancy for someone with NF2 is 65 years of age. Read more about treating neurofibromatosis type 2.
Did The Elephant Man have NF1?
Background: In 1986, two Canadian geneticists had demonstrated that Joseph Merrick, better known as the Elephant Man, suffered from the Proteus syndrome and not from neurofibromatosis type 1 (NF1), as was alleged by dermatologist Parkes in 1909.
Do café au lait spots always mean neurofibromatosis?
Q: If my child has many café-au-lait spots, does that mean that she’ll develop many neurofibromas? A: No, all factors of NF1 are independent: Many spots don’t mean many neurofibromas. Having a spot doesn’t mean that a neurofibroma will grow on that spot.
What kind of protein is the NF2 gene?
This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane.
What kind of tumors are associated with NF2 mutations?
Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008] NF2 (Neurofibromin 2) is a Protein Coding gene.
Where are NF2 and p53 mutations found in mice?
Nf2 and p53 mutations do not synergize in meningeal tumorigenesis.Nf2 gene inactivation in arachnoidal cells is rate-limiting for meningioma development in the mouse. In brain tissue and neuronal progenitor cell cultures merlin was predominantly found in neurons. Merlin expression was seen from Day 11 in mouse embryos.
How is neurofibromatosis type II ( NF2 ) treated?
Many people with this condition also experience visual problems. Neurofibromatosis type II (NF2 or NF II) is caused by mutations of the “Merlin” gene, which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions.