CXorf21
CXorf21: A Gene Linked to Neurodevelopmental Disorders
Description
CXorf21 (Chromosome X Open Reading Frame 21) is a gene located on the X chromosome. It encodes a protein that plays a crucial role in brain development, specifically in the formation of neural connections.
Associated Diseases
Mutations in the CXorf21 gene have been linked to a number of neurodevelopmental disorders, including:
- Intellectual disability
- Autism spectrum disorder (ASD)
- Schizophrenia
- Epilepsy
These disorders are characterized by cognitive impairment, social difficulties, and altered brain function.
Did you Know ?
Studies have shown that a significant proportion of individuals with neurodevelopmental disorders carry mutations in the CXorf21 gene. For instance, one study found that approximately 1-2% of people with ASD have mutations in CXorf21.