NFASC
NFASC or Neurofascin is a protein that in humans is encoded by the NFASC gene. Neurofascin is a member of the L1 family of cell adhesion molecules (CAMs) and plays a crucial role in the nervous system, particularly in the formation and maintenance of nodes of Ranvier and axonal growth.
Function[edit | edit source]
Neurofascin is an L1 family cell adhesion molecule involved in the formation of Nodes of Ranvier, the small gaps in the insulating myelin sheath where action potentials are generated in neurons. It is also involved in the growth of axons, the long threadlike part of a nerve cell along which impulses are conducted from the cell body to other cells.
Clinical significance[edit | edit source]
Mutations in the NFASC gene have been associated with neurological disorders, including autism and schizophrenia. In addition, autoantibodies against neurofascin have been found in patients with autoimmune diseases, such as multiple sclerosis and neuromyelitis optica.
See also[edit | edit source]
- L1 family
- Nodes of Ranvier
- Myelin sheath
- Action potential
- Axon
- Neurological disorders
- Autism
- Schizophrenia
- Autoimmune diseases
- Multiple sclerosis
- Neuromyelitis optica
References[edit | edit source]
External links[edit | edit source]
NFASC Resources | ||
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