treacle ribosome biogenesis factor 1
Zuletzt aktualisiert 18. Aug 2020
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Der TCOF1 gene provides instructions for making a protein called treacle. This protein is active during early embryonic development in structures that become bones and other tissues of the face, and it appears to play a critical role in the formation of these structures.
Normal function
Der TCOF1 gene provides instructions for making a protein called treacle. This protein is active during early embryonic development in structures that become bones and other tissues of the face, and it appears to play a critical role in the formation of these structures.
Studies suggest that treacle is involved in the production of a molecule called ribosomal RNA (rRNA), a chemical cousin of DNA. Ribosomal RNA helps assemble protein building blocks (amino acids) into functioning proteins, which is essential for the normal functioning and survival of cells. Treacle is active in the nucleolus, which is a small region inside the nucleus where rRNA is produced.
Conditions referring to this gene or chromosome
Other names
TCOF_HUMAN
TCS
Treacher Collins syndrome protein
Treacher Collins-Franceschetti syndrome 1
treacle
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Weiterführende Lektüre und Referenzen
- treacle ribosome biogenesis factor 1; 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/
- Conte C, D'Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G. Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. BMC Med Genet. 2011 Sep 27;12:125. doi: 10.1186/1471-2350-12-125.
- Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, Dixon MJ, Trainor PA. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A. 2006 Sep 5;103(36):13403-8. doi: 10.1073/pnas.0603730103. Epub 2006 Aug 28.
- Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC. The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. Hum Mol Genet. 2005 Jul 15;14(14):2035-43. doi: 10.1093/hmg/ddi208. Epub 2005 Jun 1.
- Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, Sugihara T, Sakiyama Y. Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. Am J Med Genet A. 2005 May 1;134(4):363-7. doi: 10.1002/ajmg.a.30357.
- Marszalek B, Wojcicki P, Kobus K, Trzeciak WH. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet. 2002;43(2):223-33.
- Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol. 2009 Jun;41(6):1229-32. doi: 10.1016/j.biocel.2008.10.026. Epub 2008 Nov 5.
- Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno MR. TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Hum Mutat. 2005 May;25(5):429-34. doi: 10.1002/humu.20159.
- Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat. 2000 Oct;16(4):315-22. doi: 10.1002/1098-1004(200010)16:43.0.CO;2-H.
- Valdez BC, Henning D, So RB, Dixon J, Dixon MJ. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Proc Natl Acad Sci U S A. 2004 Jul 20;101(29):10709-14. doi: 10.1073/pnas.0402492101. Epub 2004 Jul 12.
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18. Aug 2020 | Neueste Version
1 Jun 2012 | Ursprünglich veröffentlicht
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