Symbol: Name: ID: |
MED12 mediator complex subunit 12 GFS:1767 |
Gene name: | MED12 |
Chromosome: | Xq13 |
Previous Symbols: | TNRC11, FGS1 |
Previous Names: | trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit), "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1" |
Aliases: | CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1926212 | Rat Genome Database ID: | RGD:1585896 |
HGNC ID: | HGNC:11957 | RefSeq IDs: | NM_005120 |
Entrez Gene ID: | 9968 | Ensembl Gene ID: | ENSG00000184634 |
VEGA IDs: | OTTHUMG00000021788 | UniProt ID: | Q93074 |
UCSC ID: | uc004dyy.2 | OMIM ID: | 300188 |
Pubmed: | PMID9225980 PMID 10198638 PMID 17334363 PMID 20507344 | ||
CCDS IDs: | CCDSCCDS43970.1 |
Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human gene found on the X chromosome.Mutations in MED12 are responsible for at least two different forms of X-linked dominant mental retardation, Lujan-Fryns syndrome and FG syndrome. 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for MED12 gene
Catalog | Product Name | Application | Company |
GFS:E01767 | mediator complex subunit 12; ELISA kit | ELISA | n/a |
GFS:A01767 | mediator complex subunit 12; Anti | ANTIBODIES | n/a |
GFS:P01767 | mediator complex subunit 12; Protien | Protien | n/a |