POLR1A (RNA Polymerase I Subunit A) is a Protein Coding gene. Diseases associated with POLR1A include Acrofacial Dysostosis, Cincinnati Type and Acrofacial Dysostosis. Among its related pathways are Mismatch repair and Pyrimidine metabolism (KEGG). The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in POLR1A are a cause of the Cincinnati type of acrofacial dysostosis.
