MED14 Chromosome X

Mediator complex subunit 14
1 variant 1 Health Risk

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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
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