MED12L
Function
May be a 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 (By similarity).
Involvement in disease
Nizon-Isidor syndrome
NIZIDS
An autosomal dominant neurodevelopmental disorder characterized by intellectual disability, global developmental delay, speech impairment, and behavioral abnormalities including autism spectrum disorder and aggressive behavior. Other features include a thin corpus callosum, and mild facial dysmorphism. Disease onset is in infancy or early childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Mediator complex subunit 12 family.
Cellular localization
- Nucleus
Alternative names
KIAA1635, TNRC11L, TRALP, TRALPUSH, PRO0314, MED12L, Mediator of RNA polymerase II transcription subunit 12-like protein, Mediator complex subunit 12-like protein, Thyroid hormone receptor-associated-like protein, Trinucleotide repeat-containing gene 11 protein-like