CNTN2

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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.