MED12
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human gene found on the X chromosome.[5]
AliasesMED12, ARC240, CAGH45, FGS1, HOPA, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230, mediator complex subunit 12, Kto, HDKR
External IDsOMIM: 300188; MGI: 1926212; HomoloGene: 68441; GeneCards: MED12; OMA:MED12 - orthologs
Clinical significance
Mutations in MED12 are responsible for at least two different forms of X-linked dominant Intellectual disability, Lujan-Fryns syndrome and FG syndrome, as well as instances of prostate cancer.[6]
Mutations in MED12 are associated with uterine leiomyomas[7] and breast fibroepithelial tumors (e.g. fibroadenoma and phyllodes tumors).[8]
Interactions
MED12 has been shown to interact with: