- individuals.
These characteristics are
caused by a
mutation or
deletion in the
CREBBP gene,
located on
chromosome 16, and/or the EP300 gene,
located on chromosome...
- protein, also
known as
CREBBP or CBP or KAT3A, (where CREB is cAMP
response element-binding protein) is a
coactivator encoded by the
CREBBP gene in humans, located...
-
condition has been ****ociated with
mutations in the CREB
binding protein gene (
CREBBP). This gene is
located on the
short arm of
chromosome 16 (16p13.3). The...
- or E1A
binding protein p300) CBP (also
known as CREB-binding
protein or
CREBBP) Both p300 and CBP
interact with
numerous transcription factors and act...
-
Robinow syndrome,
autosomal recessive 2 Rubinstein-Taybi
syndrome due to
CREBBP mutations Sclerosteosis 1 Shprintzen-Goldberg
syndrome Spondyloepimetaphyseal...
- MAPK/ERK
signaling pathways that
control cell
proliferation and survival.
CREBBP: This gene's
product is a
transcriptional coactivator; it
activates numerous...
-
syndrome Pontocerebellar hypoplasia, IIA 17 Rubinstein-Taybi
syndrome due to
CREBBP mutations Saethre-Chotzen
syndrome SCARF syndrome Skin creases, congenital...
-
syndrome due to 16p13.3
microdeletion Rubinstein-Taybi
syndrome due to
CREBBP mutations Rubinstein-Taybi
syndrome due to EP300
haploinsufficiency Schwartz-Jampel...
- BLM, BRCA1, BRCA2, BRCC3, BRE, CEBPZ, CDC14A, Cdk1, CFLAR, CHEK1, CCNG1,
CREBBP, CREB1,
Cyclin H, CDK7, DNA-PKcs, E4F1, EFEMP2, EIF2AK2, ELL, EP300, ERCC6...
- Coactivator:
CREBBP Rubinstein–Taybi
syndrome Corepressor: HR (Atrichia with pa****r lesions)...
