WDR66
WDR66 Gene: An In-Depth Exploration
Description
The WDR66 gene, located on chromosome 12q24.31, encodes a protein called WD repeat domain 66. This protein is a component of the COMPASS complex, which plays a vital role in transcriptional regulation and chromatin modification. WDR66 specifically interacts with other proteins within the complex to facilitate the deposition of H3K4me3, a histone modification associated with gene activation.
Associated Diseases
Mutations in the WDR66 gene have been linked to several developmental and neurological disorders, including:
- Coffin-Siris syndrome: Characterized by coarse facial features, developmental delay, intellectual disability, and heart defects.
- Intellectual disability: Isolated intellectual disability, without other major physical anomalies.
- Microcephaly: An abnormally small head size, often accompanied by cognitive impairment.
- Autism spectrum disorder: A neurodevelopmental disorder characterized by difficulties in social interaction, communication, and repetitive behaviors.
Did you Know ?
Approximately 1 in 20,000 individuals worldwide are estimated to have mutations in the WDR66 gene, making it one of the most common causes of Coffin-Siris syndrome.
