CREBBP


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Related to CREBBP: EP300

CREBBP

A gene on chromosome 16p13.3 that encodes a ubiquitously expressed protein involved in the transcriptional coactivation of various transcription factors. CREBBP acts as a scaffold to stabilise additional protein interactions with the transcription complex; it has intrinsic histone acetyltransferase activity, and acetylates both histone and non-histone proteins.

Molecular pathology
CREBBP mutations cause Rubinstein-Taybi syndrome (RTS); chromosomal translocations of CREBBP are associated with acute myeloid leukaemia.
References in periodicals archive ?
This study represents the first to examine direct interactions between OCT4, CDX2, and CREBBP within the context of IFNT transcriptional regulation.
2003) was further evaluated by using a CREBBP inhibitor, 12S E1A.
The loss of function of the CREBBP and EP300 genes results in impaired regulation of protein acetylation and dysregulation of gene expression leading to tumor progression.
Mocetinostat is currently in a Phase 2 trial for the treatment of patients with bladder cancer that carry mutations of the histone acetyltransferase genes CREBBP and EP300.
The purpose of this trial is to determine the therapeutic efficacy of mocetinostat in selected DLBCL and FL patients with CREBBP and/or EP300 genetic alterations.
Memorial-Sloan Kettering has initiated a Phase 2 study enrolling patients with relapsed/refractory DLBCL whose tumors harbor CREBBP or EP300 gene mutations
In the same issue of Nature, investigators also reported that deletions and deactivating mutations in CREBBP and a related gene known as EP300 occurred in about one-third of patients identified with one of the two most common subtypes of B-cell non-Hodgkin lymphoma.