DISEASES

Disease-gene associations mined from literature

Literature associating MED23 and autosomal recessive non-syndromic intellectual disability

MED23 [ENSP00000357047]

Vitamin D3 receptor-interacting protein complex 130 kDa component; Required for transcriptional activation subsequent to the assembly of the pre-initiation complex (By similarity). 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 pre-initiation complex with RNA polymerase II and the general transcription factors. Required for transcriptional activation by adenovirus E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling.

Synonyms:  MED23,  MED23p,  hMED23,  B9TX51,  Q5JWT2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM