POLR1E

POLR1E, also known as RPA6, is a gene in humans that encodes the subunit E of RNA polymerase I. RNA polymerase I is responsible for transcribing ribosomal RNA (rRNA) genes, which are crucial for ribosome biogenesis. Ribosomes are essential cellular machinery responsible for protein synthesis.

The POLR1E protein is a component of the multi-subunit RNA polymerase I complex, playing a critical role in the initiation and elongation phases of rRNA transcription. The complex is highly regulated to ensure sufficient ribosome production to meet cellular demands.

Mutations in the POLR1E gene have been implicated in various developmental disorders, particularly those affecting craniofacial development. Specifically, mutations have been linked to Treacher Collins syndrome (TCS), a genetic disorder characterized by craniofacial deformities, including underdeveloped facial bones, cleft palate, and hearing loss. The impaired rRNA transcription due to mutated POLR1E is believed to disrupt ribosome biogenesis and, consequently, protein synthesis necessary for normal development.

The POLR1E protein interacts with other subunits of RNA polymerase I, forming a stable and functional complex. These interactions are essential for the polymerase's activity and stability. Research continues to explore the precise mechanisms by which POLR1E mutations lead to developmental abnormalities and the role of POLR1E in ribosome biogenesis and cellular function.

Further research areas include the potential for therapeutic interventions targeting POLR1E function to address the underlying causes of disorders like Treacher Collins syndrome.