Relevance to Autism

MED23 was identified as an ASD candidate gene based on having a false discovery rate (FDR) < 0.001 following joint analysis of protein-truncating variants, missense variants, and copy number variants in a cohort of 63,237 individuals in Fu et al., 2022; among the MED23 variants used in this analysis were three de novo missense variants, one of which had a MPC score greater than 2.

Molecular Function

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. Biallelic variants in MED23 are responsible for autosomal recessive intellectual developmental disorder-18 with or without epilepsy (MRT18; OMIM 614249), an autosomal recessive disorder characterized by impaired intellectual development with or without epilepsy.

External Links

References