EP300

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EP300

A gene on chromosome 22q13.2 that encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein, which acts as a histone acetyltransferase, regulating transcription via chromatin remodelling; it is important in cell proliferation and differentiation. EP300 is a co-activator of HIF1A (hypoxia-inducible factor-1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes (e.g., VEGF).
 
Molecular pathology
EP300 mutations are the cause of Rubinstein-Taybi syndrome and may play a role in epithelial malignancies.
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