MED12 mutations in human diseases
Protein & Cell
;
(12): 643-646, 2013.
Article
Dans Anglais
| WPRIM
| ID: wpr-757775
ABSTRACT
The Mediator Complex plays key roles in activating gene transcription in eukaryotes. Mediator of RNA polymerase II transcription subunit 12 homolog (MED12) is a subunit of the Mediator Complex and regulates the activity of the complex. MED12 is involved in a variety of cellular activities, and mutations in MED12 gene impair MED12 activities and are associated with several diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, uterine leiomyomas and prostate cancer. This review will discuss the biological function of MED12 and the relationship between MED12 mutations and diseases.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Imperforation anale
/
Tumeurs de la prostate
/
Transcription génétique
/
Tumeurs de l'utérus
/
Constipation
/
Malformations crâniofaciales
/
Prédisposition génétique à une maladie
/
Retard mental lié à l'X
/
Complexe médiateur
/
Agénésie du corps calleux
Limites du sujet:
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Protein & Cell
Année:
2013
Type:
Article
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