EP300

EP300 (also known as E1A binding protein p300) is a gene that encodes the p300 protein in humans. This protein functions as a histone acetyltransferase, which regulates transcription via chromatin remodeling. It is important in cell proliferation and differentiation, and in preventing cell death. Mutations in this gene are associated with a variety of diseases, including cancer.

Function

The EP300 gene encodes the p300 protein, a histone acetyltransferase that regulates transcription of numerous genes. This protein is involved in cell proliferation and differentiation, and it also plays a role in preventing cell death. It does this by acetylating histones, which changes the DNA structure and allows transcription factors to access the DNA.

Clinical significance

Mutations in the EP300 gene are associated with a variety of diseases. For example, they have been found in some types of cancer, including colorectal, gastric, and breast cancer. These mutations can lead to abnormal cell growth and proliferation, which can contribute to the development of cancer.

In addition to cancer, mutations in the EP300 gene have also been linked to Rubinstein-Taybi syndrome, a rare genetic disorder characterized by intellectual disability, distinctive facial features, and broad thumbs and first toes.

See also

• Histone acetyltransferase
• Transcription (genetics)
• Rubinstein-Taybi syndrome
• Cancer

External links

• GeneCards - EP300
• Genetics Home Reference - EP300