MED27
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
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
NEDSCAC
An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and poor or absent speech. More severely affected individuals do not achieve independent ambulation, whereas others develop some speech and can walk, or show regression later in childhood. Additional features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures. Brain imaging usually shows cerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and hypomyelination.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Mediator complex subunit 27 family.
Cellular localization
- Nucleus
Alternative names
CRSP34, CRSP8, MED27, Mediator of RNA polymerase II transcription subunit 27, Cofactor required for Sp1 transcriptional activation subunit 8, Mediator complex subunit 27, P37 TRAP/SMCC/PC2 subunit, Transcriptional coactivator CRSP34, CRSP complex subunit 8