CNTN2
Description
The CNTN2 gene encodes for contactin-2, a transmembrane protein crucial for the development and function of the nervous system. Contactin-2 is a cell adhesion molecule, meaning it helps cells stick together. It plays a critical role in axon guidance, synapse formation, and myelination, the process of insulating nerve fibers. Mutations in the CNTN2 gene can disrupt these processes, leading to a variety of neurological disorders.
Associated Diseases
- Hereditary Spastic Paraplegia (HSP)
- Intellectual Disability
- Autism Spectrum Disorder
- Epilepsy
- Cerebral Palsy
Did you know?
Contactin-2 is highly expressed in the brain and spinal cord, particularly in areas involved in motor control and cognition.
