CHD7 : chromodomain helicase DNA binding protein 7
Exploring the CHD7 Gene: A Key Player in Neurodevelopment and Health
Description
The CHD7 gene, harbored on chromosome 8, holds the blueprint for a crucial protein called chromodomain helicase DNA binding protein 7 (CHD7). This multifaceted protein plays a pivotal role in the intricate processes of gene regulation, neurodevelopment, and maintaining the structural integrity of our chromosomes. During fetal development, CHD7 is particularly active in vital organs such as the eyes, inner ears, and the ever-evolving brain.
Associated Diseases
Mutations within the CHD7 gene have been linked to a spectrum of neurological and developmental disorders, collectively known as CHD7-related disorders. These disorders can manifest with a range of symptoms, including:
- Intellectual disability
- Autism spectrum disorder
- Speech and language impairments
- Motor difficulties
- Facial dysmorphisms
- Seizures
- CHARGE Syndrome
Did you Know ?
CHD7-related disorders are estimated to affect approximately 1 in 50,000 individuals, highlighting the significant impact these conditions have on families and communities.
