NFASC
Description
The NFASC gene, also known as the neurofascin gene, plays a critical role in the development and function of the nervous system. It encodes a protein that acts as a cell adhesion molecule, crucial for the formation and maintenance of synapses, the junctions between nerve cells. NFASC is involved in various processes, including axon guidance, myelination, and the establishment of functional neuronal circuits. Mutations in the NFASC gene can lead to a spectrum of neurological disorders, highlighting its importance in maintaining proper brain function.
Associated Diseases
- Hereditary Spastic Paraplegia (HSP)
- Charcot-Marie-Tooth disease (CMT)
- Spinocerebellar Ataxia (SCA)
- Epilepsy
- Intellectual Disability
- Autism Spectrum Disorder
Did you know?
NFASC is found in high concentrations at the nodes of Ranvier, specialized regions along the axons of nerve cells that facilitate rapid signal transmission.
