mediator complex subunit 12
עודכן לאחרונה 14 אפר 2023
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
ה 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
ה 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
Related patient information and medicines
%20vaccination/og.png)
Patient information leaflet
חיסון נגד נגיף נשימתי סינסיציאלי (RSV)
The RSV vaccine helps protect babies and older people from the common infectious disease of the airways and lungs. Here we have information about the respiratory syncytial virus (RSV) vaccine and who should get it. What is the RSV vaccine. RSV is a common virus which causes lung infections (respiratory tract disease). An RSV infection can happen.
Patient information leaflet
האם אני יכול לקחת ויטמין B12 וויטמין B2 יחד?
למה זה קורה Vitamin B12 and vitamin B2 are both water-soluble vitamins from the B-complex family. Using other medicines Taking multiple medicines. Our בודק אינטראקציות בין תרופות helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for your medicines to see.
Patient information leaflet
האם אני יכול לקחת רמיפריל וקומפלקס ויטמין B יחד?
There is no known significant interaction between ... It is generally considered safe to take these together. Why this happens Ramipril מטופל? an ACE inhibitor used for blood pressure, while Vitamin B complex contains water-soluble vitamins (such as B1, B2, B6, B12, and folic acid). These substances are processed by the body through different pathways.
Patient information leaflet
סומטיזציה והפרעות תפקודיות
What used to be considered somatising symptoms or somatoform disorders are now more commonly termed "functional disorders" or "functional symptoms". Terminology can be confusing; lots of different terms are used and some terms have been changed in recent years. Illness is what we experience when we feel unwell. Sometimes this is caused by a.
Patient information leaflet
האם אני יכול לקחת חומצה פולית וויטמין B2 יחד?
Alcohol can interfere with the way your body absorbs this vitamin fro... Using other medicines Taking multiple medicines. Our Medicines Interaction Checker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for your medicines to see potential interactions and what to do.
Patient information leaflet
האם אני יכול לקחת טטרציקלין וסידן יחד?
This is because the calcium binds to the medicine in your stomach, preventing... Why this happens This is a pharmacokinetic interaction involving absorption. Calcium is a multivalent cation that undergoes 'chelation' with tetracycline. They bind together to form an insoluble complex in the digestive tract that is too large to pass through the gut.
קריאה נוספת והפניות
- mediator complex subunit 12; MedlinePlus, National Library of Medicine.
- Barbieri CE, Baca SC, Lawrence MS, Demichelis F, Blattner M, Theurillat JP, White TA, Stojanov P, Van Allen E, Stransky N, Nickerson E, Chae SS, Boysen G, Auclair D, Onofrio RC, Park K, Kitabayashi N, MacDonald TY, Sheikh K, Vuong T, Guiducci C, Cibulskis K, Sivachenko A, Carter SL, Saksena G, Voet D, Hussain WM, Ramos AH, Winckler W, Redman MC, Ardlie K, Tewari AK, Mosquera JM, Rupp N, Wild PJ, Moch H, Morrissey C, Nelson PS, Kantoff PW, Gabriel SB, Golub TR, Meyerson M, Lander ES, Getz G, Rubin MA, Garraway LA. Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. Nat Genet. 2012 May 20;44(6):685-9. doi: 10.1038/ng.2279.
- Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznanski J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM. The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders. Clin Genet. 2018 Nov;94(5):450-456. doi: 10.1111/cge.13412. Epub 2018 Aug 9.
- Ding N, Zhou H, Esteve PO, Chin HG, Kim S, Xu X, Joseph SM, Friez MJ, Schwartz CE, Pradhan S, Boyer TG. Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. Mol Cell. 2008 Aug 8;31(3):347-59. doi: 10.1016/j.molcel.2008.05.023.
- Gonzalez CG, Akula S, Burleson M. The role of mediator subunit 12 in tumorigenesis and cancer therapeutics. Oncol Lett. 2022 Mar;23(3):74. doi: 10.3892/ol.2022.13194. Epub 2022 Jan 10.
- Graham JM Jr, Schwartz CE. MED12 related disorders. Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10.
- Je EM, Kim MR, Min KO, Yoo NJ, Lee SH. Mutational analysis of MED12 exon 2 in uterine leiomyoma and other common tumors. Int J Cancer. 2012 Sep 15;131(6):E1044-7. doi: 10.1002/ijc.27610. Epub 2012 May 8.
- Kampjarvi K, Makinen N, Kilpivaara O, Arola J, Heinonen HR, Bohm J, Abdel-Wahab O, Lehtonen HJ, Pelttari LM, Mehine M, Schrewe H, Nevanlinna H, Levine RL, Hokland P, Bohling T, Mecklin JP, Butzow R, Aaltonen LA, Vahteristo P. Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer. Br J Cancer. 2012 Nov 6;107(10):1761-5. doi: 10.1038/bjc.2012.428. Epub 2012 Sep 20.
- Lyons MJ. MED12-Related Disorders. 2008 Jun 23 [updated 2021 Aug 12]. 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/NBK1676/
- Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-Gonzalez AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Csaszar A, Karteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22.
- Makinen N, Mehine M, Tolvanen J, Kaasinen E, Li Y, Lehtonen HJ, Gentile M, Yan J, Enge M, Taipale M, Aavikko M, Katainen R, Virolainen E, Bohling T, Koski TA, Launonen V, Sjoberg J, Taipale J, Vahteristo P, Aaltonen LA. MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas. Science. 2011 Oct 14;334(6053):252-5. doi: 10.1126/science.1208930. Epub 2011 Aug 25.
- 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.
- Perot G, Croce S, Ribeiro A, Lagarde P, Velasco V, Neuville A, Coindre JM, Stoeckle E, Floquet A, MacGrogan G, Chibon F. MED12 alterations in both human benign and malignant uterine soft tissue tumors. PLoS One. 2012;7(6):e40015. doi: 10.1371/journal.pone.0040015. Epub 2012 Jun 29.
- Philibert RA, Bohle P, Secrest D, Deaderick J, Sandhu H, Crowe R, Black DW. The association of the HOPA(12bp) polymorphism with schizophrenia in the NIMH Genetics Initiative for Schizophrenia sample. Am J Med Genet B Neuropsychiatr Genet. 2007 Sep 5;144B(6):743-7. doi: 10.1002/ajmg.b.30489.
- Philibert RA, Madan A. Role of MED12 in transcription and human behavior. Pharmacogenomics. 2007 Aug;8(8):909-16. doi: 10.2217/14622416.8.8.909.
- Philibert RA. A meta-analysis of the association of the HOPA12bp polymorphism and schizophrenia. Psychiatr Genet. 2006 Apr;16(2):73-6. doi: 10.1097/01.ypg.0000194443.81813.f0.
- Plassche SV, Brouwer AP. MED12-Related (Neuro)Developmental Disorders: A Question of Causality. Genes (Basel). 2021 Apr 28;12(5):663. doi: 10.3390/genes12050663.
- 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.
- Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Clin Genet. 2011 Feb;79(2):183-8. doi: 10.1111/j.1399-0004.2010.01449.x.
- 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.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.