RNA polymerase I and III subunit D (POLR1D)

RNA polymerase I and III subunit D (POLR1D) is a protein-coding gene encoding a key common subunit of RNA polymerase I and RNA polymerase III complexes[3]. Both complexes catalyze the DNA-dependent synthesis of ribosomal RNA (rRNA) and, for polymerase III, additional small non-coding RNAs including tRNA, snRNAs, and miRNAs[3][5]. POLR1D is essential for ribosome biogenesis and is highly expressed in embryonic tissues that will form the craniofacial skeleton[1][4]. Mutations in POLR1D disrupt rRNA production, leading to pathologies such as Treacher Collins syndrome, a rare congenital disorder characterized by craniofacial anomalies. The disease mechanism involves increased apoptosis of neural crest cells due to reduced ribosome biogenesis, with genetic evidence showing that cell death is p53-dependent in model organisms[4]. The protein is a component of the multi-subunit RNA polymerase I (13+ subunits) and polymerase III (17+ subunits) complexes[7]. There are multiple transcript variants due to alternative splicing[3]. POLR1D deficiency does not currently have drugs targeting it directly nor established mechanisms for pharmacological modulation.

Other names

RNA polymerase I subunit DDNA-directed RNA polymerase I subunit DRNA polymerase I 16 kDa subunitRPAC2RPA16AC19RPO1-3RPA9RPC16Polymerase (RNA) I polypeptide D, 16kDaRNA polymerases I and III subunit AC2