Recombinant Human MED13L protein (ab153226)

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. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.

Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain.

Defects in MED13L are a cause of transposition of the great arteries, dextro-looped (DTGA) [MIM:608808]. DTGA consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required.
Note=A chromosomal aberration involving MED13L is found in a patient with transposition of the great arteries, dextro-looped and mental retardation. Translocation t(12;17)(q24.1;q21).

Belongs to the Mediator complex subunit 13 family.

Phosphorylated upon DNA damage, probably by ATM or ATR.

Nucleus.