What is the function of merlin protein?
Merlin helps regulate several key signaling pathways that are important for controlling cell shape, cell growth, and the attachment of cells to one another (cell adhesion). This protein functions as a tumor suppressor, preventing cells from growing and dividing too fast or in an uncontrolled way.
What is Merlin in biology?
Merlin (Moesin-ezrin-radixin-like protein, also known as schwannomin) is a tumor suppressor protein encoded by the neurofibromatosis type 2 gene NF2. Loss of function mutations or deletions in NF2 cause neurofibromatosis type 2 (NF2), a multiple tumor forming disease of the nervous system.
What is fn1 disease?
Neurofibromatosis type 1 (NF1) is a genetic condition that causes tumours to grow along your nerves. The tumours are usually non-cancerous (benign) but may cause a range of symptoms. Neurofibromatosis type 2 (NF2) is much less common than NF1.
Is NF2 a tumor suppressor gene?
The NF2 tumor suppressor gene, located in chromosome 22q12, is involved in the development of multiple tumors of the nervous system, either associated with neurofibromatosis 2 or sporadic ones, mainly schwannomas and meningiomas.
Where is Neurofibromin located?
Neurofibromin 1 (NF1) is a gene in humans that is located on chromosome 17.
What is neurofibroma?
Neurofibromas are tumors that originate from nerve cells. Plexiform neurofibromas are nerve-associated tumors involving nerves outside of the brain and spinal cord. They can be present at birth or may not become noticeable for many years.
How rare is NF2?
NF2 is a rare disorder that affects males and females in equal numbers. All races and ethnic groups are equally affected by this disorder. The estimated incidence of NF2 is 1 in 33,000 people worldwide. The symptoms of this disease typically become apparent during puberty or early adulthood.
What is the life expectancy of someone with NF1?
Life expectancy in NF1 is approximately 8 years less than the general population. Lifetime risks for both benign and malignant tumors are increased in NF1-affected individuals.
Is NF1 life threatening?
NF1 is often not life-threatening. But other problems may occur over time. These may include seizures, developmental delay, and increased risk for noncancer tumors. Your child’s healthcare provider will tell you more about your child’s condition and treatment choices.
What is the life expectancy of someone with neurofibromatosis type 2?
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.
Can a person have both NF1 and NF2?
It’s extremely rare that someone would have both NF1 and NF2. Here are some notable clinical differences between NF1 and NF2: NF2 is more rare than NF1, which affects 1 in every 3,500 births.
What is the role of the Neurofibromin protein in a cell?
Neurofibromin acts as a tumor suppressor protein. Tumor suppressors normally prevent cells from growing and dividing too rapidly or in an uncontrolled way. This protein appears to prevent cell overgrowth by turning off another protein (called ras) that stimulates cell growth and division.