Description

The CREBBP gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to CREB (cAMP-response element binding) protein, this gene is now known to play critical roles in embryonic development, growth control, and homeostasis. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS) (Blough et al., 2000).