MED12L

MED12L is a gene that encodes the Mediator complex subunit 12L protein in humans. The Mediator complex is a multi-protein complex that functions as a transcriptional coactivator in all eukaryotes. It plays a key role in the regulation of RNA polymerase II-dependent gene transcription.

Function

The MED12L protein is a part of the Mediator complex, which is required for the transcription of nearly all class II gene promoters. The Mediator complex functions as a bridge, conveying regulatory information from transcription factors to the RNA polymerase II enzyme. MED12L, along with other Mediator subunits, is essential for the successful transcription of genes.

Clinical Significance

Mutations in the MED12L gene have been associated with various neurodevelopmental disorders, including intellectual disability and autism spectrum disorder. Studies have shown that these mutations can disrupt the normal function of the Mediator complex, leading to abnormal gene transcription and, consequently, neurodevelopmental abnormalities.

Research

Research into the MED12L gene and its associated protein is ongoing, with scientists seeking to better understand its role in gene transcription and its implications for neurodevelopmental disorders. This research could potentially lead to new therapeutic strategies for these disorders.

See Also

• Mediator complex
• RNA polymerase II
• Transcription factor
• Neurodevelopmental disorder
• Autism spectrum disorder