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.
Other Names
AC40; DNA-directed RNA polymerase I subunit C; DNA-directed RNA polymerases I and III 40 kDa polypeptide; DNA-directed RNA polymerases I and III subunit RPAC1; polymerase (RNA) I polypeptide C; polymerase (RNA) I polypeptide C, 30kDa; polymerase (RNA) I subunit C; RNA polymerase I subunit C; RNA polymerases I and III subunit AC1; RPA39; RPA40; RPA5; RPAC1; RPAC1_HUMAN; RPC40
Related Genetics Topics
Identifiers
- NCBI Gene: 9533
- OMIM: 610060
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
