WBSCR22
Understanding WBSR22 Gene: A Comprehensive Guide
Introduction
The WBSR22 gene is a crucial component of human genetics, playing a vital role in various developmental processes and cellular functions. Its significance extends to the understanding of several genetic disorders and diseases. In this blog post, we delve deep into the WBSR22 gene, exploring its description, associated diseases, interesting statistics, references, and recent research advancements.
Description of WBSR22 Gene
Located on chromosome 16q21, the WBSR22 gene encodes a protein called Williams-Beuren syndrome chromosome region 22. This protein is a member of the WD repeat domain family, characterized by a series of conserved amino acid repeats. WBSR22 is predominantly expressed in the heart, brain, and kidneys, suggesting its involvement in organ development and function.
Associated Diseases
Mutations or abnormalities in the WBSR22 gene have been linked to various genetic disorders, including:
- Williams-Beuren Syndrome (WBS): A rare genetic disorder characterized by a distinctive facial appearance, intellectual disability, and cardiac abnormalities. WBS is caused by a deletion on chromosome 16q21, which includes the WBSR22 gene.
- Autism Spectrum Disorder (ASD): Studies have identified variations in the WBSR22 gene in individuals with ASD, suggesting its potential role in neurodevelopmental disorders.
- Congenital Heart Disease (CHD): Mutations in the WBSR22 gene have been associated with an increased risk of CHD, particularly valvular defects.
Did you Know ?
Approximately 1 in 10,000 individuals worldwide are affected by WBS, highlighting the prevalence of this genetic disorder.
