Disease-gene associations mined from literature

Literature associating MED15 and chromosome 22q11.2 microduplication syndrome

MED15 [ENSP00000263205]

Positive cofactor 2 glutamine/Q-rich-associated protein; 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. Required for cholesterol-dependent gene regulation. Positively regulates the Nodal signaling pathway.

Synonyms:  MED15,  MED15p,  hMED15,  B3KWF1,  B4DM43 ...

Linkouts:  STRING  Pharos  UniProt  OMIM