Disease-gene associations mined from literature

Literature associating MED22 and juvenile spinal muscular atrophy

MED22 [ENSP00000482438]

Mediator of RNA polymerase II transcription subunit 22; 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:  MED22,  MED22p,  hMED22,  A0A024R8C5,  E7EN96 ...

Linkouts:  STRING  Pharos  UniProt