POLR1E Activators

POLR1E, also known as RNA polymerase I subunit E, is a protein-coding gene. This gene is part of a family of genes that encode subunits of RNA polymerases, the enzymes responsible for the synthesis of RNA in cells, a critical step in gene expression.The POLR1E gene specifically encodes a component of RNA polymerase I and III (Pol I and Pol III). The primary role of Pol I is the transcription of ribosomal RNA (rRNA), a key component of the protein-making machinery in cells, the ribosomes. Pol III, on the other hand, mainly transcribes tRNAs and 5S rRNA, other crucial molecules for protein synthesis.

Mutations in the POLR1E gene have been associated with hypomyelinating leukodystrophy 11, a rare neurological disorder characterized by a loss of myelin, the fatty substance that covers and protects nerve cells. This condition affects the central nervous system and leads to progressively worsening neurological indicators.In summary, POLR1E is a critical component of the complex machinery that controls gene expression and protein synthesis, and its study can provide important insights into the fundamental processes of cell biology and disease.