WBSCR16

---

The wbscr16 Gene: A Key Player in Growth and Development

Description

The wbscr16 gene, also known as Williams-Beuren syndrome critical region 16, is located on chromosome 7q11.23 and encodes a protein called WBSCR16. WBSCR16 is a large, multi-domain protein with a role in regulating transcription, the process by which genetic information is converted into instructions for protein synthesis.

Associated Diseases

Mutations in the wbscr16 gene are associated with Williams-Beuren syndrome (WBS), a rare genetic disorder characterized by distinctive facial features, intellectual disability, and cardiovascular problems. WBS is caused by the deletion of a specific region on chromosome 7q11.23 that includes the wbscr16 gene.

Did you Know ?

Approximately 1 in 7,500 individuals are affected by Williams-Beuren syndrome worldwide.