title: MED12 mutations in human diseases.
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.
authors.affiliation: Jiangsu Taizhou People's Hospital, Taizhou, 225300, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Wang
authors.affiliation: Taizhou Maternal and Children's Health-Care Center, Taizhou, 225300, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Shen
authors.affiliation: Jiangsu Taizhou People's Hospital, Taizhou, 225300, China.
authors.forename: Li-Hua
authors.initials: LH
authors.lastname: Ye
authors.affiliation: Jiangsu Taizhou People's Hospital, Taizhou, 225300, China. yejun@gotofcm.com.
authors.forename: Jun
authors.initials: J
authors.lastname: Ye
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000235:genetics; D001006:Anus, Imperforate / Q000235:genetics; D003248:Constipation / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007889:Leiomyoma / Q000235:genetics; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics; D056892:Mediator Complex / Q000235:genetics* / Q000378:metabolism*; D038901:X-Linked Intellectual Disability / Q000235:genetics; D009123:Muscle Hypotonia / Q000151:congenital / Q000235:genetics; D009154:Mutation; D011471:Prostatic Neoplasms / Q000235:genetics; D014158:Transcription, Genetic; D014594:Uterine Neoplasms / Q000235:genetics
chemical_list: C460107:MED12 protein, human; D056892:Mediator Complex