mediator complex subunit 17
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalSevere microcephaly
BIALLELIC, autosomal or pseudoautosomalinfantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
hereditary disease
neurodegenerative disease
Intellectual disability
microcephaly
hepatocellular carcinoma
Cerebellar atrophy
epilepsy
prostate carcinoma
Familial prostate cancer
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Mediator of RNA polymerase II transcription subunit 17
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
MED17 · Q9NVC6
Mean pLDDT
78.6/ 100
Confident
651 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
