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CREBBP gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CREBBP gene

The CREBBP gene provides instructions for a protein that regulates gene activity, playing a critical role in development, memory formation, and cell growth.

Overview

The CREBBP gene provides instructions for making CREB binding protein, which regulates the activity of many genes throughout the body. This protein is essential for controlling cell growth and division, prompting cells to mature (differentiate), and is critical for brain development and the formation of long-term memories.

CREB binding protein functions as a histone acetyltransferase and a transcriptional coactivator. It ensures DNA is ready for transcription by attaching an acetyl group to histones (acetylation), which changes the shape of chromosomes to make genes accessible. It also connects transcription factors to the proteins that carry out the transcription process.

Health Conditions Related to Genetic Changes

Rubinstein-Taybi syndrome

Mutations in the CREBBP gene cause Rubinstein-Taybi syndrome, characterized by short stature, intellectual disability, distinctive facial features, and broad thumbs and first toes. Because one copy of the gene is altered, cells produce only half the normal amount of functional protein, disrupting development.

Menke-Hennekam syndrome

Mutations in specific regions of the CREBBP gene (exon 30 or 31) can cause Menke-Hennekam syndrome. This condition involves intellectual disability and growth delays, but lacks the characteristic facial and digit abnormalities of Rubinstein-Taybi syndrome. Other features may include seizures, vision or hearing impairment, and autistic behaviors.

Chromosome 16p13.3 duplication syndrome

When the region of chromosome 16 containing the CREBBP gene is duplicated, it can cause chromosome 16p13.3 duplication syndrome. This is characterized by intellectual disability, distinctive facial features, abnormal thumbs, and rigid joints (arthrogryposis). Researchers suspect that an extra copy of the gene leads to an excess of CREB binding protein, altering gene transcription.

Cancers

Somatic mutations in the CREBBP gene are associated with several cancers:

  • Acute myeloid leukemia (AML): Chromosomal rearrangements (translocations) involving the CREBBP gene region have been identified in some cases.
  • B-cell non-Hodgkin lymphoma: Mutations that reduce the amount of functional protein or impair its histone acetyltransferase activity prevent normal control of cell growth in B cells.

Other Names for This Gene

  • CBP
  • CBP_HUMAN
  • CREB binding protein (Rubinstein-Taybi syndrome)

Genomic Location

The CREBBP gene is found on chromosome 16.

Frequently Asked Questions

Diagnosis is confirmed by detecting a heterozygous loss‑of‑function variant in the CREBBP gene, most often a nonsense or frameshift mutation that truncates the protein. Chromosomal microarray can also identify deletions encompassing CREBBP. Testing is performed on blood DNA using next‑generation sequencing panels for developmental disorders.
Early intervention with speech, occupational, and physical therapy is essential to address language delays, motor coordination, and feeding difficulties. Behavioral therapy can help manage autistic features, and regular audiology and ophthalmology assessments are advised to treat hearing or vision problems promptly.
No. CREBBP mutations are typically haploinsufficient, meaning a single altered copy reduces functional protein by about 50 % regardless of inheritance. The severity depends more on the specific mutation location (e.g., exon 30/31 variants) than on parental phenotype, so a clinically mild carrier can still have a child with classic Rubinstein‑Taybi features.
nnual cardiac evaluation (echocardiogram) because congenital heart defects can appear later, routine orthopedic exams for joint stiffness or arthrogryposis, and neuropsychological testing to monitor cognitive changes. Additionally, screening for endocrine issues (thyroid, growth hormone) is recommended, as duplications can affect hormonal pathways.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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