MED12 : mediator complex subunit 12

Description

The MED12 (mediator complex subunit 12) is a protein-coding gene located on chromosome X.

The MED12 gene provides instructions for making a protein called mediator complex subunit 12. This protein is part of the mediator complex, a group of about 25 proteins that work together to regulate gene activity. The mediator complex links transcription factors, which control whether genes are turned on or off, with an enzyme called RNA polymerase II. Once transcription factors bind, RNA polymerase II initiates gene transcription, the process that uses a gene's DNA to build proteins. Researchers believe that the MED12 protein plays a role in many aspects of early development, including the formation of nerve cells in the brain. The MED12 protein is involved in several chemical signaling pathways within cells, directing a wide range of cellular activities like cell growth, cell movement, and cell differentiation.

MED12 is part of the Mediator complex, a crucial coactivator that regulates the transcription of nearly all genes that rely on RNA polymerase II. It acts as a bridge, relaying information from gene-specific regulatory proteins to the core RNA polymerase II transcription machinery. Mediator interacts directly with regulatory proteins to attach to promoters, providing a platform for assembling the functional pre-initiation complex with RNA polymerase II and general transcription factors. MED12 might specifically control the transcription of genes regulated by the Wnt and SHH signaling pathways.

MED12 is also known as ARC240, CAGH45, FGS1, HDKR, HOPA, Kto, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230.

Associated Diseases

• FG syndrome type 1
• Opitz-Kaveggia syndrome
• Ohdo syndrome, X-linked
• Hardikar syndrome
• Blepharophimosis-intellectual disability syndrome, MKB type
• Lujan-Fryns syndrome
• Blepharophimosis-intellectual disability syndrome, Ohdo type
• FG syndrome
• Lujan syndrome
• Ohdo syndrome, Maat-Kievit-Brunner type
• Prostate cancer