POLR1C : RNA polymerase I and III subunit C

Description

The POLR1C (RNA polymerase I and III subunit C) is a protein-coding gene located on chromosome 6.

The POLR1C gene provides instructions for making one part (subunit) of two related enzymes called RNA polymerase I and RNA polymerase III. These enzymes are involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. Both enzymes help synthesize a form of RNA known as ribosomal RNA (rRNA). RNA polymerase III also plays a role in the synthesis of several other forms of RNA, including transfer RNA (tRNA). Ribosomal RNA and transfer RNA assemble protein building blocks (amino acids) into functioning proteins, which is essential for the normal functioning and survival of cells. Based on its involvement in Treacher Collins syndrome, the POLR1C gene appears to play a critical role in the early development of structures that become bones and other tissues of the face.

DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. POLR1C/RPAC1, a common component of RNA polymerases I and III, is part of the polymerase core. It may function as a clamp element that moves to open and close the cleft during the synthesis of ribosomal RNA precursors and short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs.

POLR1C is also known as AC40, HLD11, RPA39, RPA40, RPA5, RPAC1, RPC40, TCS3.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing