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 13 Like) is a Protein Coding gene. Diseases associated with MED13L include Transposition Of The Great Arteries, Dextro-Looped 1 and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Thyroid hormone signaling pathway and Developmental Biology. GO annotations related to this gene include RNA polymerase II transcription cofactor activity. An important paralog of this gene is MED13.
UniProtKB/Swiss-Prot 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.