WBSCR17
WBSCR17 Gene: A Comprehensive Overview
Description
The WBSCR17 gene, located on chromosome 17p13.3, encodes a protein called Williams-Beuren syndrome chromosome region 17 protein. This protein plays a crucial role in the development and function of the human brain and heart.
The WBSCR17 protein is involved in various cellular processes, including transcription, translation, and protein folding. It is highly expressed in the brain, particularly in areas responsible for cognitive function and language processing. In the heart, WBSCR17 is involved in the development and maintenance of blood vessels.
Associated Diseases
Mutations in the WBSCR17 gene have been linked to several genetic disorders, including:
- Williams-Beuren syndrome: A rare genetic disorder characterized by a distinctive facial appearance, developmental delays, intellectual disability, and cardiovascular problems.
- Schizophrenia: A complex mental disorder characterized by delusions, hallucinations, and disorganized thinking.
- Parkinson's disease: A progressive neurodegenerative disorder characterized by tremors, rigidity, and impaired movement.
Did you Know ?
Approximately 1 in 10,000 individuals are affected by Williams-Beuren syndrome, making it one of the most common genetic disorders.
