MED13L
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. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.
Involvement in disease
A chromosomal aberration involving MED13L is found in a patient with transposition of the great arteries, dextro-looped and intellectual disability. Translocation t(12;17)(q24.1;q21).
Impaired intellectual development and distinctive facial features with or without cardiac defects
MRFACD
An autosomal dominant syndrome characterized by intellectual disability, delayed psychomotor development, profound language impairment, and facial dysmorphism, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Mediator complex subunit 13 family.
Tissue Specificity
Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain.
Cellular localization
- Nucleus
Alternative names
KIAA1025, PROSIT240, THRAP2, TRAP240L, MED13L, Mediator of RNA polymerase II transcription subunit 13-like, Mediator complex subunit 13-like, Thyroid hormone receptor-associated protein 2, Thyroid hormone receptor-associated protein complex 240 kDa component-like