RNA polymerase I and III subunit D
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A POLR1D 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.
Normal function
A POLR1D 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 POLR1D gene appears to play a critical role in the early development of structures that become bones and other tissues of the face.
Conditions referring to this gene or chromosome
Other names
AC19
DNA-directed RNA polymerase I subunit D
DNA-directed RNA polymerases I and III subunit RPAC2
FLJ20616
MGC9850
polymerase (RNA) I polypeptide D
polymerase (RNA) I polypeptide D, 16kDa
polymerase (RNA) I subunit D
RNA polymerase I subunit D
RNA polymerases I and III subunit AC2
RPA16
RPA9
RPAC2
RPAC2_HUMAN
RPC16
RPO1-3
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Leitura adicional e referências
- RNA polymerase I and III subunit D; MedlinePlus, National Library of Medicine.
- Barbosa M, Jabs EW, Huston S. Treacher Collins Syndrome. 2004 Jul 20 [updated 2024 Jun 20]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1532/
- Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5.
- Fisher E. Exploring the genetic origins of Treacher Collins syndrome. Clin Genet. 2011 Apr;79(4):330-2. doi: 10.1111/j.1399-0004.2011.01632.x. Epub 2011 Feb 7. No abstract available.
- Yao Y, Yamamoto K, Nishi Y, Nogi Y, Muramatsu M. Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III. J Biol Chem. 1996 Dec 20;271(51):32881-5. doi: 10.1074/jbc.271.51.32881.
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