DISEASES

Disease-gene associations mined from literature

Literature associating MED9 and Potocki-Lupski syndrome

MED9 [ENSP00000268711]

Mediator of RNA polymerase II transcription subunit 9; 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.

Synonyms:  MED9,  MED9p,  hMED9,  J3KTK5,  Q9NWA0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM