MED9

Chr 17

mediator complex subunit 9

Also known as: MED25

NCBI Gene: 55090 ENSG00000141026 UniProt: Q9NWA0 OMIM: 609878

The protein encoded by this gene is a component of the Mediator complex, which functions as a coactivator that bridges gene-specific regulatory proteins to the RNA polymerase II transcription machinery for regulated gene expression. Mutations cause neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, which follows an autosomal recessive inheritance pattern. The disorder typically presents in infancy with developmental delays, seizures, and progressive brain volume loss.

OMIM ResearchSummary from RefSeq, UniProt

The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.93

Clinical Summary— MED9

⚡

Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.20) despite low pLI — interpret in context.

Explore recent and relevant literature in Research Assistant →