MED24 Chromosome 17
Mediator complex subunit 24
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What This Gene Does
This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Mediator complex|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
17q21.1
Ensembl
ENSG00000008838
Associated Conditions (1)
Short stature
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1568162263 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS760297650 | Health Risk | Likely pathogenic | Short stature, Short stature |