mediator complex subunit 23
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalautosomal recessive non-syndromic intellectual disability
arginase deficiency
hereditary disease
type 2 diabetes mellitus
neurodegenerative disease
Intellectual disability
metabolic syndrome
breast adenocarcinoma
neurodevelopmental disorder
syndromic intellectual disability
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Mediator of RNA polymerase II transcription subunit 23
Required for transcriptional activation subsequent to the assembly of the pre-initiation complex (By similarity). 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. Required for transcriptional activation by adenovirus E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling
MED23 · Q9ULK4
Mean pLDDT
86.9/ 100
Confident
1,368 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
