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CREBBP (CBP) gene
Pathology:
- loss of heterozygosity described in 80% of glioblastomas.
- loss of heterozygocity around CBP gene locus seen in hepatocellular carcinoma
- chromosomal translocations in acute leukemia
- t(8;16)(p11;p13) involving CBP & MOZ
- t(11;16)(q23;p13.3) involving CBP & MLL
- t(10;16)(q22;p13) involving CBP & MYST4 (AML)
- mutations associated with Rubinstein Taybi syndrome
Related
CREB-binding protein; CBP transcriptional coactivator (CREBBP, CBP)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: CREB-binding protein
LOCUS: human chromosome-16 P13
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 600140
MORBIDMAP 600140
References
- OMIM :accession 607968