WBSCR28
The WBSR28 Gene: A Comprehensive Guide
Description
The wbscr28 gene, located on chromosome 11q13.3, encodes a protein known as Williams-Beuren syndrome chromosome region 28 (WBSR28). WBSR28 is a member of the WD repeat-containing protein family and plays a crucial role in various cellular processes, including transcription regulation, chromatin remodeling, and RNA metabolism.
Associated Diseases
Mutations or variations in the WBSR28 gene have been associated with several genetic disorders, including:
- Williams-Beuren syndrome (WBS): A rare genetic disorder characterized by distinct facial features, developmental delays, cardiovascular abnormalities, and increased sociability. WBS is caused by a deletion of the chromosomal region containing the WBSR28 gene.
- Hypercalcemia of infancy: A rare disorder that leads to dangerously high levels of calcium in infants. WBSR28 mutations are found in some cases of hypercalcemia of infancy.
- Other developmental disorders: Studies have identified WBSR28 variants in individuals with intellectual disability, autism spectrum disorder, and developmental delays.
Did you Know ?
Approximately 1 in 20,000 individuals worldwide are affected by Williams-Beuren syndrome, making it a relatively rare disorder. However, the impact of WBSR28 mutations on other developmental disorders is not fully understood, suggesting that further research is needed.
