POLR1D encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. POLR1D (RNA Polymerase I Subunit D) is a Protein Coding gene. Diseases associated with POLR1D include Treacher Collins Syndrome 2 and Polr1d-Related Treacher Collins Syndrome. Among its related pathways are Pyrimidine metabolism (KEGG) and RNA Polymerase III Transcription Initiation.
