mediator complex subunit 12
Zuletzt aktualisiert 14. Apr 2023
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Der MED12 gene provides instructions for making a protein called mediator complex subunit 12. As its name suggests, this protein forms one part (subunit) of the mediator complex, which is a group of about 25 proteins that work together to regulate gene activity. The mediator complex physically links transcription factors, which are proteins that influence whether genes are turned on or off, with an enzyme called RNA polymerase II. Once transcription factors are attached, this enzyme initiates gene transcription, the process by which information stored in a gene's DNA is used to build proteins.
Normal function
Der MED12 gene provides instructions for making a protein called mediator complex subunit 12. As its name suggests, this protein forms one part (subunit) of the mediator complex, which is a group of about 25 proteins that work together to regulate gene activity. The mediator complex physically links transcription factors, which are proteins that influence whether genes are turned on or off, with an enzyme called RNA polymerase II. Once transcription factors are attached, this enzyme initiates gene transcription, the process by which information stored in a gene's DNA is used to build proteins.
Researchers believe that the MED12 protein is involved in many aspects of early development, including the development of nerve cells (neurons) in the brain. The MED12 protein is part of several chemical signaling pathways within cells. These pathways help direct a broad range of cellular activities, such as cell growth, cell movement (migration), and the process by which cells mature to carry out specific functions (differentiation).
Conditions referring to this gene or chromosome
Other names
CAGH45
HOPA
KIAA0192
MED12_HUMAN
mediator of RNA polymerase II transcription, subunit 12 homolog
OKS
OPA-containing protein
OPA1
thyroid hormone receptor-associated protein, 230 kDa subunit
TNRC11
TRAP230
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Weiterführende Lektüre und Referenzen
- mediator complex subunit 12; MedlinePlus, National Library of Medicine.
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- Murakami H, Enomoto Y, Tsurusaki Y, Sugio Y, Kurosawa K. A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12. Congenit Anom (Kyoto). 2020 May;60(3):91-93. doi: 10.1111/cga.12350. Epub 2019 Jul 29. No abstract available.
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- Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007 Apr;39(4):451-3. doi: 10.1038/ng1992. Epub 2007 Mar 4.
- Rubinato E, Rondeau S, Giuliano F, Kossorotoff M, Parodi M, Gherbi S, Steffan J, Jonard L, Marlin S. MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. Eur J Med Genet. 2020 Mar;63(3):103768. doi: 10.1016/j.ejmg.2019.103768. Epub 2019 Sep 16.
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- Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet. 2007 Jul;44(7):472-7. doi: 10.1136/jmg.2006.048637. Epub 2007 Mar 16.
- Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7.
- Warmoeskerken T, Theunis M, Van den Bogaert K, Devriendt K, Breckpot J. Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 -Related Developmental Disorders. Am J Med Genet A. 2026 Jul;200(7):1619-1650. doi: 10.1002/ajmg.a.70122. Epub 2026 Mar 13.
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14. Apr 2023 | Neueste Version
1 Apr 2013 | Ursprünglich veröffentlicht
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