mediator complex subunit 13L
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L MED13L gene provides instructions for making a protein that is one piece (subunit) of a group of proteins known as the mediator complex. This complex regulates the activity (transcription) of genes. Transcription is the first step in the process by which information stored in a gene's DNA is used to build proteins.
Normal function
L MED13L gene provides instructions for making a protein that is one piece (subunit) of a group of proteins known as the mediator complex. This complex regulates the activity (transcription) of genes. Transcription is the first step in the process by which information stored in a gene's DNA is used to build proteins.
The mediator complex physically links the proteins that can turn genes on, called transcription factors, with the enzyme that carries out transcription, called RNA polymerase II. Once transcription factors are attached to RNA polymerase II, transcription begins.
Researchers believe that as part of the mediator complex, the MED13L protein is involved in many aspects of early development, including development of the heart, nerve cells (neurons) in the brain, and structures in the face. The mediator complex plays a role in 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
Altri nomi
KIAA1025
MEDIATOR COMPLEX SUBUNIT 13-LIKE
PROSIT240
PROTEIN SIMILAR TO TRAP240
THRAP2
THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 2
TRAP240-LIKE PROTEIN
TRAP240L
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Ulteriori letture e riferimenti
- mediator complex subunit 13L; MedlinePlus, National Library of Medicine.
- Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. Eur J Hum Genet. 2013 Oct;21(10):1100-4. doi: 10.1038/ejhg.2013.17. Epub 2013 Feb 13.
- Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Eur J Med Genet. 2017 Sep;60(9):451-464. doi: 10.1016/j.ejmg.2017.06.004. Epub 2017 Jun 21.
- Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25.
- Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6.
- van Haelst MM, Monroe GR, Duran K, van Binsbergen E, Breur JM, Giltay JC, van Haaften G. Further confirmation of the MED13L haploinsufficiency syndrome. Eur J Hum Genet. 2015 Jan;23(1):135-8. doi: 10.1038/ejhg.2014.69. Epub 2014 Apr 30.
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