C52534Level 5
CREBBP wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - CBP - CREB Binding Protein (Rubinstein-Taybi Syndrome) Gene - CREB Binding Protein wt Allele - KAT3A - RSTS - RSTS1 - RTS - Rubinstein-Taybi Syndrome Gene
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