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EP300 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EP300 gene

The EP300 gene provides instructions for making a protein that regulates gene activity and is critical for normal development and cell growth.

Normal Function

The EP300 gene provides instructions for making a protein called p300, which regulates the activity of many genes in tissues throughout the body. This protein is essential for controlling cell growth, division, and differentiation, and is critical for normal development before and after birth.

The p300 protein functions as a histone acetyltransferase, attaching an acetyl group to histones—structural proteins that bind DNA. This process, called acetylation, changes the shape of the chromosome to make genes available for transcription. Additionally, p300 acts as a transcriptional coactivator, connecting transcription factors to the proteins that carry out the transcription process.

Health Conditions Related to Genetic Changes

Rubinstein-Taybi syndrome

More than 80 mutations in the EP300 gene have been identified in people with Rubinstein-Taybi syndrome, a condition characterized by short stature, intellectual disability, distinctive facial features, and broad thumbs and first toes. These mutations result in the loss of one functional copy of the EP300 gene, reducing the amount of p300 protein by half and disrupting normal development.

Other disorders

  • Menke-Hennekam syndrome: Mutations in specific regions of the EP300 gene (exon 30 or 31) can cause this rare condition. Unlike Rubinstein-Taybi syndrome, individuals with this condition do not have characteristic thumb and toe abnormalities, but may experience intellectual disability, growth delays, seizures, and autistic behaviors.
  • Cancers: Somatic mutations (acquired during a person's lifetime) in the EP300 gene have been identified in several cancers, including acute myeloid leukemia (AML) and solid tumors of the colon, rectum, stomach, breast, and pancreas. These mutations prevent the production of functional p300 protein, which normally restrains cell growth and division.

Frequently Asked Questions

nswer: While both conditions involve intellectual disability and growth delays, Rubinstein-Taybi syndrome is characterized by distinctive facial features and broad thumbs and first toes. Menke-Hennekam syndrome, caused by mutations in specific EP300 regions, typically lacks these thumb and toe abnormalities but may present with seizures and autistic behaviors.
nswer: Management is multidisciplinary and focuses on early intervention. This often includes physical, occupational, and speech therapy to address developmental delays, special education support, and medical management for any associated health issues like heart defects or feeding difficulties. Regular monitoring by specialists is also important.
nswer: EP300-related conditions like Rubinstein-Taybi syndrome are often de novo (new mutations) but can sometimes be inherited. Genetic counseling is crucial to understand the specific type of mutation, the inheritance pattern, and the recurrence risk for future children. Prenatal diagnosis options may be discussed depending on the specific family situation.
nswer: The p300 protein, encoded by EP300, is a critical regulator of cell growth and division. Somatic mutations in this gene can disrupt its normal function, leading to uncontrolled cell proliferation and impaired DNA repair mechanisms. This can contribute to the development and progression of various cancers, including acute myeloid leukemia and several solid tumors.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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