RNA polymerase I and III subunit C
Última actualización 19 Apr 2023
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El 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.
Normal function
El 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.
Conditions referring to this gene or chromosome
Otros nombres
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
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Lecturas adicionales y referencias
- RNA polymerase I and III subunit C; 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.
- Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8175-80. doi: 10.1073/pnas.95.14.8175.
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