POLD1

Description

The POLR1A gene provides instructions for making a protein called the largest subunit of RNA polymerase I. This enzyme is crucial for the synthesis of ribosomal RNA (rRNA), a vital component of ribosomes, the protein-making machinery of cells. POLR1A plays a central role in cell growth, development, and function. Mutations in this gene can disrupt rRNA production, leading to various developmental and physiological problems.

Associated Diseases

• Treacher Collins syndrome
• Branchio-oto-renal syndrome
• Ritsma-Bouman syndrome
• Diamond-Blackfan anemia
• Neurodevelopmental disorders
• Intellectual disability
• Growth retardation
• Skeletal abnormalities

Did you know?

Mutations in POLR1A can lead to a wide spectrum of disorders, highlighting the critical role of rRNA synthesis in human health.