PCDH19
Description
The PCDH19 gene, located on chromosome X, encodes a protein crucial for the development and function of the brain. It plays a role in cell adhesion and signaling, contributing to the formation of neural circuits. Mutations in PCDH19 can lead to various neurological disorders, highlighting its significance in brain health.
Associated Diseases
- PCDH19-Related Epilepsy
- PCDH19-Related Intellectual Disability
- PCDH19-Related Autism Spectrum Disorder
- PCDH19-Related Developmental Delay
Did you know?
PCDH19 mutations are more commonly found in females due to X-chromosome inactivation, which protects most females from the effects of a single mutated copy.
