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.
