MED23

Chr 6AR

mediator complex subunit 23

Also known as: ARC130, CRSP130, CRSP133, CRSP3, DRIP130, MRT18, SUR-2, SUR2

NCBI Gene: 9439 ENSG00000112282 UniProt: Q9ULK4 OMIM: 605042

The MED23 protein is a subunit of the CRSP cofactor complex required for SP1-mediated gene transcription activation and also functions as a component of thyroid hormone receptor-associated protein complexes that facilitate transcription initiation by RNA polymerase II. Biallelic mutations cause autosomal recessive intellectual developmental disorder-18, with or without epilepsy. The pathogenic mechanism involves disrupted transcriptional regulation due to loss of cofactor function in gene activation processes.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012]

OMIM ResearchGenerating clinical summary…