DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively.
Treacher Collins syndrome 2
TCS2
A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the archaeal Rpo11/eukaryotic RPB11/RPC19 RNA polymerase subunit family.
DNA-directed RNA polymerases I and III subunit RPAC2, RNA polymerases I and III subunit AC2, AC19, DNA-directed RNA polymerase I subunit D, RNA polymerase I 16 kDa subunit, RPC16, hRPA19, RPA16, POLR1D
Proteins
Immunology & Infectious Disease
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