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CREBBP - CREB binding protein

Synonym(s) : CBP, KAT3A, RTS
Previous symbols and names : RSTS, Rubinstein-Taybi syndrome
Type : gene with protein product
Chromosomal location : 16p13.3
OMIM: 600140
HGNC: 2348
UniProtKB: Q92793
Genatlas: CREBBP
GenCC: CREBBP
Ensembl: ENSG00000005339
IUPHAR-DB: 2734
Reactome: Q92793
LOVD: CREBBP

Diseases list

Disease-causing germline mutation(s) in Menke-Hennekam syndrome ORPHA:592574
Disease-causing germline mutation(s) in Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
Part of a fusion gene in Acute myeloid leukemia with t(8;16)(p11;p13) translocation ORPHA:370026
Role in the phenotype of Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (66)

Research activities on this gene

Specialised Social Services

Eurordis directory

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