rs949538020
This variant is located in the EP300 gene.
▶ClinVar annotation
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
View on ClinVar →About EP300
This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]
View all EP300 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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