MED9

Chr 17

mediator complex subunit 9

Also known as: MED25

NCBI Gene: 55090 ENSG00000141026 UniProt: Q9NWA0

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.

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.93

LOEUF

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Mechanism

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