DISEASES

Disease-gene associations mined from literature

Literature associating MED12 and imperforate anus

MED12 [ENSP00000363193]

Thyroid hormone receptor-associated protein complex 230 kDa component; 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. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.

Synonyms:  MED12,  MED12p,  hMED12,  HOPA,  Q7Z2E0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM