p300-CBP coactivator family – clinical significance
Mutations in CBP, and to a lesser extent p300, are the cause of Rubinstein-Taybi Syndrome, which is characterized by severe mental retardation. These mutations result in the loss
Histone acetyltransferase p300
Histone acetyltransferase p300 also known as p300 HAT or E1A-associated protein p300 (where E1A = adenovirus early region 1A) also known as EP300 or p300 is an enzyme t
Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder that is the result of genetic mutations in either CBP or p300
Rubinstein-Taybi Syndrome (RTS) Type 1, which is caused by CBP mutations, for which over 500 different variations have been documented, accounts for approximately 55% of all cases