" /> CREBBP wt Allele - CISMeF





Preferred Label : CREBBP wt Allele;

NCIt synonyms : RTS; RSTS; CBP; CREBBP; Rubinstein-Taybi Syndrome Gene; CREB Binding Protein wt Allele; RSTS1; CREB Binding Protein (Rubinstein-Taybi Syndrome) Gene; KAT3A;

NCIt definition : Human CREBBP wild-type allele is located in the vicinity of 16p13.3 and is approximately 154 kb in length. This allele, which encodes CREB-binding protein, plays a role in the mediation of both histone acetylation and cyclic AMP responses. Mutations in a single copy of this gene are associated with Rubinstein-Taybi syndrome. Translocations involving this gene may be a factor in some acute myeloid leukemias.;

NCIt note : The CREBBP gene is involved in several translocations that may be a cause of acute myeloid leukemias, including translocation t(8;16)(p11;p13) with the MYST3 gene, translocation t(11;16)(q23;p13.3) with the MLL gene, and translocation t(10;16)(q22;p13) with the MYST4 gene (SwissProt).;

GenBank Accession Number : NM_004380;

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12/05/2024


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