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EP300 E1A binding protein p300

Also known as: p300; KAT3B; RSTS2


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]

Copy number response

Copy number response

No evidence available (Last evaluated (2013-03-14)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-03-14)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 22; NC_000022.11 (41092610..41180077)
Total number of exons:


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