MED12 mutations in human diseases

Protein Cell. 2013 Sep;4(9):643-6. doi: 10.1007/s13238-013-3048-3.

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.

Publication types

  • Review

MeSH terms

  • Agenesis of Corpus Callosum / genetics
  • Anus, Imperforate / genetics
  • Constipation / genetics
  • Craniofacial Abnormalities / genetics
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Leiomyoma / genetics
  • Male
  • Marfan Syndrome / genetics
  • Mediator Complex / genetics*
  • Mediator Complex / metabolism*
  • Muscle Hypotonia / congenital
  • Muscle Hypotonia / genetics
  • Mutation*
  • Prostatic Neoplasms / genetics
  • Transcription, Genetic
  • Uterine Neoplasms / genetics
  • X-Linked Intellectual Disability / genetics

Substances

  • MED12 protein, human
  • Mediator Complex

Supplementary concepts

  • Lujan Fryns syndrome
  • Opitz-Kaveggia syndrome