Recombinant Human POLR1D protein

POLR1D (RNA Polymerase I and III Subunit D) is a critical component of the RNA polymerase I and III complexes, which are essential for synthesizing ribosomal RNA (rRNA) and small RNAs, including transfer RNAs (tRNAs) and 5S rRNA. These RNA molecules play fundamental roles in ribosome biogenesis, protein synthesis, and cellular homeostasis. The POLR1D gene encodes a shared subunit that contributes to the structural integrity and enzymatic activity of both RNA polymerase I (Pol I) and III (Pol III). Dysregulation of POLR1D has been linked to developmental disorders and cancer. For instance, heterozygous mutations in POLR1D are associated with Treacher Collins syndrome, a craniofacial disorder characterized by abnormal head and face development, as well as autosomal dominant hearing loss. In cancer, POLR1D has been implicated as both a potential oncogene and tumor suppressor, depending on the context, with altered expression observed in various malignancies.

Recombinant POLR1D protein is engineered for functional studies to elucidate its role in transcription, ribosome assembly, and disease mechanisms. Produced using heterologous expression systems (e.g., E. coli or mammalian cells), the recombinant protein retains the ability to integrate into Pol I/III complexes, enabling researchers to investigate its interactions with other subunits, DNA, or regulatory factors. Studies using recombinant POLR1D have also explored how pathogenic mutations disrupt RNA polymerase assembly or activity, providing insights into molecular pathways underlying related disorders. Additionally, this tool aids in screening therapeutic compounds targeting Pol I/III activity, particularly in cancers reliant on hyperactive rRNA synthesis. Overall, POLR1D recombinant proteins serve as vital reagents for dissecting the molecular basis of transcription-linked diseases and developing targeted interventions.