LP101392-1
MED12 gene
Active
Descriptions
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. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia
The MED12 gene (mediator complex subunit 12) [HGNC Gene ID:11957] is located on chromosome Xq13. 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] [NCBI Gene ID:9968] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- MED12 gene
- Part Display Name
- MED12 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-07-26
- Construct for LOINC Short Name
- MED12 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | MED12 基因 Synonyms: ARC240; |
| et-EE | Estonian (Estonia) | MED12 geen |
| es-ES | Spanish (Spain) | Gen MED12 |
| it-IT | Italian (Italy) | MED12, gene Synonyms: Gene MED12 |
| tr-TR | Turkish (Turkey) | MED12 geni |
| ru-RU | Russian (Russian Federation) | MED12 ген |
| nl-NL | Dutch (Netherlands) | MED12-gen Synonyms: MED12 gen |
| fr-FR | French (France) | MED12 gène |
| pl-PL | Polish (Poland) | MED12 gen Synonyms: Gen MED12 |
| el-GR | Greek (Greece) | Γονίδιο MED12 Synonyms: Γονίδιο MED12 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://