CNTN1

Description

The CNTN1 gene provides instructions for making a protein called contactin 1. This protein plays a crucial role in the development and function of the nervous system. It helps neurons connect with each other and form synapses, the junctions where nerve impulses are transmitted. Contactin 1 also interacts with other proteins to regulate the growth and guidance of axons, the long extensions of neurons that transmit signals. Mutations in the CNTN1 gene can disrupt these processes, leading to a range of neurological disorders.

Associated Diseases

• Hereditary Spastic Paraplegia (HSP)
• Spinocerebellar Ataxia (SCA)
• Intellectual Disability
• Autism Spectrum Disorder
• Epilepsy
• Schizophrenia

Did you know?

CNTN1 gene is located on chromosome 11, a region known to be associated with a number of neurological disorders.