mediator complex subunit 27
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Diagnostic Grade (Green)
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalneurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
Intellectual disability
cataract
Spasticity
Dystonia
Cerebellar hypoplasia
epilepsy
Axial hypotonia
neurodegenerative disease
smoking initiation
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Mediator of RNA polymerase II transcription subunit 27
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 preinitiation complex with RNA polymerase II and the general transcription factors
Curated MONDO disease pages that list MED27 among their top associated genes.
MED27 · Q6P2C8
Mean pLDDT
82.4/ 100
Confident
311 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
