MED8

Chr 1

mediator complex subunit 8

Also known as: ARC32

NCBI Gene: 112950 ENSG00000159479 UniProt: Q96G25 OMIM: 607956

The MED8 protein is a component of the Mediator complex that facilitates transcription by serving as a bridge between gene-specific regulatory proteins and RNA polymerase II, and may also function in protein ubiquitination and degradation. Mutations cause autosomal recessive developmental delays, intellectual disability, and distinctive facial features, with this gene being highly intolerant to loss-of-function variants (pLI near 1.0). The condition typically presents in early childhood with neurodevelopmental abnormalities.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

LOEUF 1.10

Clinical Summary— MED8

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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