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. 2013 Jul 8;4(9):643–646. doi: 10.1007/s13238-013-3048-3

MED12 mutations in human diseases

Hua Wang 1, Qin Shen 2, Li-hua Ye 1, Jun Ye 1,✉
PMCID: PMC4875528  PMID: 23836153

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.

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