MED12 mutations in human diseases.
10.1007/s13238-013-3048-3
- Author:
Hua WANG
1
;
Qin SHEN
2
;
Li-Hua YE
1
;
Jun YE
3
Author Information
1. Jiangsu Taizhou People's Hospital, Taizhou, 225300, China.
2. Taizhou Maternal and Children's Health-Care Center, Taizhou, 225300, China.
3. Jiangsu Taizhou People's Hospital, Taizhou, 225300, China. yejun@gotofcm.com.
- Publication Type:Journal Article
- MeSH:
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;
metabolism;
Mental Retardation, X-Linked;
genetics;
Muscle Hypotonia;
congenital;
genetics;
Mutation;
Prostatic Neoplasms;
genetics;
Transcription, Genetic;
Uterine Neoplasms;
genetics
- From:
Protein & Cell
2013;4(9):643-646
- CountryChina
- Language:English
-
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.
