MED11 Chromosome 17

Mediator complex subunit 11

1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in MED11.

What This Gene Does

MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]

Gene Info

Gene Group

Mediator complex

Locus Type

gene with protein product

Location

17p13.2

Ensembl

ENSG00000161920

Associated Conditions (4)

Neurodegeneration with developmental delay

early respiratory failure

myoclonic seizures

and brain abnormalities

Key Variants

RS770295047

Pathogenic

Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS770295047	Health Risk	Pathogenic	Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures