WDR63
The WDR63 Gene: A Key Player in Human Health
Description
The WDR63 gene, located on chromosome 12q12, plays a critical role in the human body. It encodes a protein called WD40 repeat-containing protein 63, which is involved in various cellular processes, including chromatin remodeling, transcription regulation, and DNA repair.
Associated Diseases
Mutations in the WDR63 gene have been linked to several diseases, including:
- Bainbridge-Ropers Syndrome: A rare genetic disorder characterized by intellectual disability, distinctive facial features, and growth delays.
- Intellectual Disability: Individuals with mutations in WDR63 often exhibit a range of intellectual disabilities, from mild to severe.
- Epilepsy: WDR63 mutations have been associated with an increased risk of developing epilepsy, particularly in children.
- Autism Spectrum Disorder (ASD): Studies have suggested that WDR63 may be involved in the development of ASD, although further research is needed to confirm this association.
Did you Know ?
- Approximately 1 in 100,000 people worldwide are affected by Bainbridge-Ropers Syndrome, which is caused by mutations in the WDR63 gene.
