WDR60
The WDR60 Gene: A Gateway to Understanding Complex Diseases
Description
The WDR60 gene, located on chromosome 14q32.12, encodes a protein named WD repeat-containing protein 60 (WDR60). This protein is a component of the COMPASS complex, which plays a crucial role in the regulation of gene expression. WDR60 is involved in several cellular processes, including transcription, chromatin remodeling, and DNA damage repair.
Associated Diseases
Mutations in the WDR60 gene have been linked to a range of human diseases, including:
- Intellectual disability: WDR60 mutations are estimated to cause around 1% of all cases of intellectual disability.
- Multiple congenital anomalies: Individuals with WDR60 mutations may have various physical abnormalities, such as craniofacial dysmorphism, heart defects, and skeletal malformations.
- Autism spectrum disorder: WDR60 mutations have been identified in a small subset of individuals with autism spectrum disorder.
- Cancer: Aberrant expression of WDR60 has been implicated in the development of certain types of cancer, including breast cancer and leukemia.
Did you Know ?
- Approximately 1 in 100,000 people carry a rare mutation in the WDR60 gene.
