MED14 Chromosome X
Mediator complex subunit 14
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What This Gene Does
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. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mediator complex
Locus Type
gene with protein product
Location
Xp11.4
Ensembl
ENSG00000180182
Associated Conditions (1)
Intellectual disability
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145739870 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |