WDR72

Description

The WDR72 gene provides instructions for making a protein that plays a crucial role in the assembly and function of ribosomes, the cellular machinery responsible for protein synthesis. This protein, known as WD repeat domain 72, acts as a scaffold, bringing together various components needed for ribosome biogenesis. Mutations in the WDR72 gene can disrupt this process, leading to a spectrum of genetic disorders.

Associated Diseases

• Diamond-Blackfan Anemia (DBA)
• 5q- syndrome
• Dyskeratosis congenita
• Shwachman-Diamond syndrome
• Ribosomal protein disorders

Did you know?

WDR72 mutations are often associated with a distinctive facial appearance in patients with DBA, characterized by a prominent forehead, a small chin, and a wide-set nose.