mediator complex subunit 11
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalSevere microcephaly
BIALLELIC, autosomal or pseudoautosomalneurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
neurodegenerative disease
neurodevelopmental disorder
bone remodeling disease
MODY
maturity-onset diabetes of the young type 3
transient neonatal diabetes mellitus
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
diabetes mellitus, transient neonatal, 3
glycogen storage disorder due to hepatic glycogen synthase deficiency
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Mediator of RNA polymerase II transcription subunit 11
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 pre-initiation complex with RNA polymerase II and the general transcription factors
MED11 · Q9P086
Mean pLDDT
87.5/ 100
Confident
117 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
