MED25

From Wikipedia, the free encyclopedia

Template:Short description An Error has occurred retrieving Wikidata item for infobox Mediator of RNA polymerase II transcription subunit 25 is an enzyme that in humans is encoded by the MED25 gene.[1][2][3]

Intellectual developmental disorder

A homozygous variant in the MED25 gene, leading to an arginine to trypsin substitution, was identified in seven individuals with impaired intellectual development and characteristic facial features.[4] The genetic variant segregated with the disorder and was not found in control populations. This putative homozygous variant arose 218 years ago in this Brazilian family.[5]

Interactions

MED25 has been shown to interact with MED4.[6]

References

Page Template:Reflist/styles.css has no content.

  1. ^ Page Module:Citation/CS1/styles.css has no content.Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Apr 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
  2. ^ Page Module:Citation/CS1/styles.css has no content.Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
  3. ^ Page Module:Citation/CS1/styles.css has no content."Entrez Gene: MED25 mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)".
  4. ^ Page Module:Citation/CS1/styles.css has no content.Figueiredo, Thalita; Melo, Uirá Souto; Pessoa, André Luiz Santos; Nobrega, Paulo Ribeiro; Kitajima, João Paulo; Correa, Igor; Zatz, Mayana; Kok, Fernando; Santos, Silvana (February 2015). "Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family". Journal of Medical Genetics. 52 (2): 123–127. doi:10.1136/jmedgenet-2014-102793. PMID 25527630.
  5. ^ Page Module:Citation/CS1/styles.css has no content.de Farias, Allysson Allan; Nunes, Kelly; Lemes, Renan Barbosa; Moura, Ronald; Fernandes, Gustavo Ribeiro; Melo, Uirá Souto; Zatz, Mayana; Kok, Fernando; Santos, Silvana (8 November 2018). "Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations". Scientific Reports. 8 (1) 16552. Bibcode:2018NatSR...816552D. doi:10.1038/s41598-018-35022-1. PMC 6224410. PMID 30410084.
  6. ^ Page Module:Citation/CS1/styles.css has no content.Tomomori-Sato C, Sato S, Parmely TJ, Banks CA, Sorokina I, Florens L, Zybailov B, Washburn MP, Brower CS, Conaway RC, Conaway JW (Feb 2004). "A mammalian mediator subunit that shares properties with Saccharomyces cerevisiae mediator subunit Cse2" (PDF). The Journal of Biological Chemistry. 279 (7): 5846–51. doi:10.1074/jbc.M312523200. PMID 14638676.

Further reading

Page Template:Refbegin/styles.css has no content.


Template:Asbox