Disease-gene associations mined from literature

Literature associating MED13L and atrial heart septal defect 5

MED13L [ENSP00000281928]

Thyroid hormone receptor-associated protein complex 240 kDa component-like; 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:  MED13L,  MED13Lp,  hMED13L,  F8VRB8,  H0YIQ7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM