Table of Contents
What does the neurofibromin gene do?
The NF1 gene is located on chromosome 17. This gene produces a protein called neurofibromin that helps regulate cell growth. The mutated gene causes a loss of neurofibromin, which allows cells to grow uncontrolled.
What is the role of neurofibromin NF1 protein in the RAS signaling cycle?
The neurofibromin protein has multiple biochemical roles. It acts as a ras-GAP (GTPase activating protein) to negatively regulate ras signaling, and it can also serve as an activator of adenylyl-cyclase. Both pathways play a role in mediating signaling events from the membrane to downstream targets within the neuron.
How does neurofibromatosis type 1 affect the body?
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.
Is neurofibromin a tumor suppressor gene?
Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 (NF1).
How does neurofibromin regulate RAS?
Neurofibromin is a key regulator of RAS and adenylyl cyclase signal transduction from the cell membrane to the nucleus. Neurofibromin, a cytoplasmic GAP-like protein, negatively regulates RAS activation by accelerating the conversion of RAS-GTP to RAS-GDP and increasing RAS signal transduction.
What is the difference between neurofibromatosis type 1 and 2?
Neurofibromatosis 1 (NF1): The NF1 gene on chromosome 17 makes a protein called neurofibromin that controls your cells’ growth. The mutation of this gene causes a neurofibromin loss and uncontrolled cell growth. Neurofibromatosis 2 (NF2): The NF2 gene on chromosome 22 makes a protein called merlin or schwannomin.
How does NF1 act as a Tumour suppressor?
NF1 loss is thought to mediate resistance to RAF and MEK inhibitors through sustained MAPK pathway activation. On the basis of murine models, Nf1 mutation suppresses Braf-induced senescence in melanocytes, promoting melanocyte proliferation and enhancing melanoma development.
What gene is mutated in NF1?
NF1 is caused by changes (pathogenic variants) in a gene called NF1, which is found on chromosome 17. This gene regulates the production of a protein known as neurofibromin, which is thought to function as a tumor suppressor.
What is a neurofibromin protein?
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.
What causes neurofibromatosis?
Causes. NF1 is caused by mutations in the gene that controls production of a protein called neurofibromin (neurofibromin 1). This gene is believed to function as a tumor suppressor. In about 50% of people with NF1, the disorder results from gene mutations that occur for unknown reasons (spontaneous mutation).
How does neurofibromatosis affect the brain?
Neurofibromatosis is a genetic disorder that is typically diagnosed in childhood or early adulthood. This disorder can cause tumors to develop in the nervous system, including the brain, spinal cord and nerves. In most cases, these tumors are benign and slow-growing.
What functional category does neurofibromin belong to?
Does neurofibromatosis affect behavior?
The most common complications of NF1 are cognitive and behavioral deficits. Up to 80% of children with NF1 experience cognitive and behavioral difficulties involving different domains.
What is the life expectancy of someone with neurofibromatosis type 1?
If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder.
What is the function of neurofibromin?
Function. Neurofibromin is also believed to be involved in the synaptic ATP-PKA-cAMP pathway, through modulation of adenylyl cyclase. It is also known to bind the caveolin 1, a protein which regulates p21ras, PKC and growth response factors.
What is the function of NF1 in neurofibromatosis?
NF1 codes for neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras -bound GTP. NF1 has a high mutation rate and mutations in NF1 can alter cellular growth control, and neural development, resulting in neurofibromatosis type 1 (NF1,…
What are the downstream targets of neurofibromin?
In case of neurofibromin, Ras family proteins, such as MAPK and ERK of the MAPK family, are the main downstream targets ( Cui et al., 2008 ).
Is neurofibromin a tumor suppressor?
Abstract Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 (NF1).