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Reviewed January 2007
What is the official name of the EP300 gene?
The official name of this gene is “E1A binding protein p300.”
EP300 is the gene's official symbol. The EP300 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the EP300 gene?
The EP300 gene provides instructions for making a protein called p300. This protein regulates the activity of many genes in tissues throughout the body. It plays an essential role in controlling cell growth and division and prompting cells to mature and assume specialized functions (differentiate). The p300 protein appears to be critical for normal development before and after birth.
The p300 protein carries out its function by activating transcription, the process of making a blueprint of a gene for protein production. Specifically, p300 connects transcription factors, which are proteins that start the transcription process, with the complex of proteins that carries out transcription. On the basis of this function, p300 is called a transcriptional coactivator.
Does the EP300 gene share characteristics with other genes?
The EP300 gene belongs to a family of genes called chromatin-modifying enzymes (chromatin-modifying enzymes).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the EP300 gene related to health conditions?
Where is the EP300 gene located?
Cytogenetic Location: 22q13.2
Molecular Location on chromosome 22: base pairs 41,092,301 to 41,180,082
The EP300 gene is located on the long (q) arm of chromosome 22 at position 13.2.
More precisely, the EP300 gene is located from base pair 41,092,301 to base pair 41,180,082 on chromosome 22.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about EP300?
You and your healthcare professional may find the following resources about EP300 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the EP300 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding EP300?
acute ; acute myeloid leukemia ; AML ; cancer ; cell ; chemotherapy ; chromosome ; colon ; domain ; gene ; histone ; leukemia ; myeloid ; pancreas ; prostate ; protein ; rectum ; stomach ; syndrome ; transcription ; translocation
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.