Gene Symbol | MED12 |
Entrez Gene ID | 9968 |
Full Name | mediator complex subunit 12 |
Synonyms | ARC240,CAGH45,FGS1,HOPA,MED12S,OHDOX,OKS,OPA1,TNRC11,TRAP230 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]. |
Disorder MIM: | |
Disorder Html: | Opitz-Kaveggia syndrome, 305450 (3); Lujan-Fryns syndrome, 309520 (3); Ohdo syndrome, X-linked, 300895 (3) |