MED17

Chr 11

mediator complex subunit 17

Also known as: CRSP6, CRSP77, DRIP80, SRB4, TRAP80

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly, postnatal progressive, with seizures and brain atrophy
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
0.78
LOEUF
Mechanism
📖
GeneReview available — MED17
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.78LOEUF
pLI 0.000
Z-score 2.63
OE 0.54 (0.380.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.88Z-score
OE missense 0.87 (0.790.95)
298 obs / 343.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.380.78)
00.351.4
Missense OE?0.87 (0.790.95)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 20 / 37.3Missense obs/exp: 298 / 343.8Syn Z: 0.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MED17 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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