Aliases for MED13L Gene
External Ids for MED13L Gene
Previous HGNC Symbols for MED13L Gene
Previous GeneCards Identifiers for MED13L Gene
The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]
GeneCards Summary for MED13L Gene
MED13L (Mediator Complex Subunit 13L) is a Protein Coding gene. Diseases associated with MED13L include Mental Retardation And Distinctive Facial Features With Or Without Cardiac Defects and Transposition Of The Great Arteries, Dextro-Looped 1. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism. An important paralog of this gene is MED13.
UniProtKB/Swiss-Prot Summary for MED13L Gene
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.