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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Gene (a) (region) Gene name (a) ADHFE1 Alcohol dehydrogenase, iron containing 1 ALX4 ALX homeobox 4 CNRIP1 Cannabinoid receptor interacting protein 1 EID3 EP300 interacting inhibitor of differentiation 3 ELM01 Engulfment and cell motility 1 ESR1 Estrogen receptor 1 FBAM(1) Fibrillin 1 FBN1(2) -- FBN1(3A) -- FBN1(3.
26 EP300 functions as a histone acetyl transferase and transcription co-activator that regulates chromatin remodelling and mutations in this gene are reported to cause Rubinstein- Taybi syndrome, a disorder with many behavioural phenotypes.
The trial is aimed at assessing the efficacy, safety and pharmacokinetics of mocetinostat and will enrol patients whose tumours have mutations or deletions of the CREBBP and/or EP300 genes.
The product is a potent spectrum selective inhibitor of HDAC 1, 2, 3 and 11, and is being developed as a single agent treatment targeting mutations and deletions of the histone acetyltransferase genes CREBBP and EP300.
The EP300 is a biometric fingerprint-time attendance device.
Therefore, the EP300 represents an ideal choice for business owners throughout the developing world, especially those who do not have access to reliable power supplies.
Genetic heterogeneity in Rubinstein-Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease.
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.
These authors proposed the existence of 3 novel candidate oncogenes--NME2 (nucleoside diphosphate kinase), EID1/CRI1 (regulator of EP300 and RB1), and PDGFC (platelet-derived growth factor)--and 1 candidate tumor suppressor gene, GSN (cytoskeleton regulator), in MPM.
1), que tambien contribuye a la reparacion de danos del ADN y el gen supresor de tumor EP300 (22q13).
Associations of genetic variants in the estrogen receptor coactivators PPAGC1A, PPARGC1B and EP300 with familial breast cancer.