MED13

MED13 is a gene that encodes a component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. MED13 functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. The Mediator complex, having different modules for different functions, is key to the transcriptional regulation process.

Structure

The MED13 gene is located on the q arm of chromosome 17 at position 12. More precisely, the MED13 gene is located from base pair 34,759,671 to base pair 34,934,673 on chromosome 17. The MED13 protein encoded by this gene is part of the CDK8 subcomplex, which also includes MED12, CDK8, and cyclin C (CCNC), and possesses kinase activity.

The Mediator complex

Function

The MED13 protein is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II. This protein, encoded by the MED13 gene, plays a role in transcriptional activation and gene expression. It is involved in the regulation of multiple cellular processes, including metabolism, cell cycle, and development.

Clinical significance

Mutations in the MED13 gene have been associated with congenital heart defects, neurodevelopmental disorders, and obesity. Studies have shown that MED13 plays a crucial role in heart development and function, and mutations in this gene can lead to various heart-related disorders.

Research

Research on the MED13 gene and its encoded protein is ongoing, with studies focusing on its role in transcriptional regulation and its implications in various diseases. Understanding the function of MED13 could potentially lead to new therapeutic strategies for treating diseases associated with mutations in this gene.

See also

• Mediator complex
• Transcription (genetics)
• Gene expression