Biology:MED25

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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

  1. ↑ "Large-scale concatenation cDNA sequencing". Genome Research 7 (4): 353–8. Apr 1997. doi:10.1101/gr.7.4.353. PMID 9110174. 
  2. ↑ "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. Mar 2001. doi:10.1101/gr.GR1547R. PMID 11230166. 
  3. ↑ "Entrez Gene: MED25 mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=81857. 
  4. ↑ Figueiredo, Thalita; Melo, Uirá Souto; Pessoa, André Luiz Santos; Nobrega, Paulo Ribeiro; Kitajima, João Paulo; Correa, Igor; Zatz, Mayana; Kok, Fernando et al. (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. ↑ de Farias, Allysson Allan; Nunes, Kelly; Lemes, Renan Barbosa; Moura, Ronald; Fernandes, Gustavo Ribeiro; Melo, Uirá Souto; Zatz, Mayana; Kok, Fernando et al. (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). doi:10.1038/s41598-018-35022-1. PMID 30410084. Bibcode: 2018NatSR...816552D. 
  6. ↑ "A mammalian mediator subunit that shares properties with Saccharomyces cerevisiae mediator subunit Cse2". The Journal of Biological Chemistry 279 (7): 5846–51. Feb 2004. doi:10.1074/jbc.M312523200. PMID 14638676. https://authors.library.caltech.edu/records/7e4h4-sxm34/files/TOMjbc04.pdf?download=1. 

Further reading