MED17
Function
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 preinitiation complex with RNA polymerase II and the general transcription factors.
Involvement in disease
Microcephaly, postnatal progressive, with seizures and brain atrophy
MCPHSBA
A disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Mediator complex subunit 17 family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Nucleus
Alternative names
ARC77, CRSP6, DRIP77, DRIP80, TRAP80, MED17, Mediator of RNA polymerase II transcription subunit 17, Activator-recruited cofactor 77 kDa component, Cofactor required for Sp1 transcriptional activation subunit 6, Mediator complex subunit 17, Thyroid hormone receptor-associated protein complex 80 kDa component, Transcriptional coactivator CRSP77, Vitamin D3 receptor-interacting protein complex 80 kDa component, CRSP complex subunit 6, Trap80