MED23
Function
Required for transcriptional activation subsequent to the assembly of the pre-initiation complex (By similarity). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. Required for transcriptional activation by adenovirus E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling.
Involvement in disease
Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy
MRT18
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Mediator complex subunit 23 family.
Cellular localization
- Nucleus
Alternative names
ARC130, CRSP3, DRIP130, KIAA1216, SUR2, MED23, Mediator of RNA polymerase II transcription subunit 23, Activator-recruited cofactor 130 kDa component, Cofactor required for Sp1 transcriptional activation subunit 3, Mediator complex subunit 23, Protein sur-2 homolog, Transcriptional coactivator CRSP130, Vitamin D3 receptor-interacting protein complex 130 kDa component, CRSP complex subunit 3, hSur-2