EP300 [SEP] found in taxon
be critical for normal development before and after birth.
The EP300 gene is located on the long (q) arm of the human chromosome 22 at position 13.2. This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein.
EP300 is closely related to another gene, CREB binding protein, which is found on human chromosome 16.
Function.
p300 HAT functions as histone acetyltransferase that regulates transcription via chromatin remodeling, and is important in the processes of cell proliferation and differentiation. It mediates
Rubinstein-Taybi syndrome, it is clear that the loss of one copy of the EP300 gene disrupts normal development.
Chromosomal rearrangements involving chromosome 22 have rarely been associated with certain types of cancer. These rearrangements, called translocations, disrupt the region of chromosome 22 that contains the EP300 gene. For example, researchers have found a translocation between chromosomes 8 and 22 in several people with a cancer of blood cells called acute myeloid leukemia (AML). Another translocation, involving chromosomes 11 and 22, has been found in a