Aliases for POLR1D Gene
External Ids for POLR1D Gene
Previous GeneCards Identifiers for POLR1D Gene
The protein 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. [provided by RefSeq, Apr 2011]
GeneCards Summary for POLR1D Gene
POLR1D (Polymerase (RNA) I Polypeptide D, 16kDa) is a Protein Coding gene. Diseases associated with POLR1D include polr1d-related treacher collins syndrome and treacher collins syndrome 2. Among its related pathways are Immune System and Epstein-Barr virus infection. GO annotations related to this gene include protein dimerization activity and RNA polymerase I activity.
UniProtKB/Swiss-Prot for POLR1D Gene
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively