transcriptional repressor GATA binding 1
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L TRPS1 gene provides instructions for making a protein that regulates the activity of many other genes. The TRPS1 protein is found within the cell nucleus where it interacts with specific regions of DNA to turn off (repress) gene activity. Based on this role, the TRPS1 protein is called a transcription factor. Research suggests that the TRPS1 protein plays a role in regulating genes that control the growth of bone and cartilage, a tough but flexible tissue that makes up much of the skeleton during early development.
Normal function
L TRPS1 gene provides instructions for making a protein that regulates the activity of many other genes. The TRPS1 protein is found within the cell nucleus where it interacts with specific regions of DNA to turn off (repress) gene activity. Based on this role, the TRPS1 protein is called a transcription factor. Research suggests that the TRPS1 protein plays a role in regulating genes that control the growth of bone and cartilage, a tough but flexible tissue that makes up much of the skeleton during early development.
Conditions referring to this gene or chromosome
Altri nomi
GC79
LGCR
TRPS1_HUMAN
zinc finger transcription factor TRPS1
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Ulteriori letture e riferimenti
- transcriptional repressor GATA binding 1; MedlinePlus, National Library of Medicine.
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- Hilton MJ, Sawyer JM, Gutierrez L, Hogart A, Kung TC, Wells DE. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J Hum Genet. 2002;47(3):103-6. doi: 10.1007/s100380200010.
- Maas SM, Shaw AC, Bikker H, Ludecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Gronborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.
- Momeni P, Glockner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Ludecke HJ. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet. 2000 Jan;24(1):71-4. doi: 10.1038/71717.
- Tuysuz B, Gunes N, Alkaya DU. Trichorhinophalangeal Syndrome. 2017 Apr 20 [updated 2024 Mar 21]. 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/NBK425926/
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