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CHD3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CHD3 gene

The CHD3 gene provides instructions for a protein that regulates gene expression by remodeling chromatin, a process essential for development and cell function.

Normal Function

The CHD3 gene provides instructions for making a protein that regulates gene activity (expression) by a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The CHD3 protein helps with this process by moving components called nucleosomes, which helps bundle DNA in a tight package or make it more accessible for gene expression. The protein provides energy for this remodeling by breaking down a molecule called ATP.

Through its ability to regulate gene activity, the CHD3 protein is involved in many developmental processes, including:

  • Maintenance of the structure and integrity of DNA.
  • Cell fate determination: The maturation process that determines the type of cell an immature cell will become.
  • Cell cycle: The growth of cells as they replicate themselves.

Health Conditions Related to Genetic Changes

Snijders Blok-Campeau syndrome

More than 25 mutations in the CHD3 gene have been found to cause Snijders Blok-Campeau syndrome. This condition is characterized by intellectual disability, developmental delay, speech delay, and distinctive facial features. Most mutations change single protein building blocks (amino acids) in the CHD3 protein, often altering the area involved in breaking down ATP. These mutations can either increase or decrease the protein's chromatin remodeling activity, affecting genes that direct the development of many organs and tissues before birth.

Other Names for This Gene

  • Mi-2a
  • Mi2-ALPHA

Genomic Location

The CHD3 gene is found on chromosome 17.

Frequently Asked Questions

clinical exome sequencing or a neurodevelopmental disorder panel that includes CHD3 is the preferred test. Most U.S. insurers cover exome sequencing when there is a documented developmental delay or dysmorphic features, but prior authorization may be required. Providing the clinician’s justification (e.g., “suspected Snijders Blok‑Campeau syndrome”) improves the likelihood of coverage.
Children typically show mild‑to‑moderate intellectual disability, delayed speech (often first words after 2 years), and characteristic facial features such as a broad forehead, arched eyebrows, and a short philtrum. Developmental delays are usually noticed in the first 12‑24 months, but facial features may be subtle until later childhood.
Intensive speech‑language therapy started as early as possible is most effective, often combined with augmentative and alternative communication (AAC) devices for non‑verbal children. Educational support through individualized education plans, small‑group instruction, and visual‑based learning strategies can address learning challenges. Occupational therapy can aid fine‑motor skills, and behavioral therapy may help with attention or autism‑like traits.
Most pathogenic CHD3 variants are de novo, so the recurrence risk for siblings is low (<1 %). However, if a parent is found to carry the variant (rare), the inheritance follows an autosomal‑dominant pattern with a 50 % chance of transmission. Parents should discuss options such as prenatal diagnostic testing (CVS/amniocentesis) or pre‑implantation genetic testing (PGT‑M) with a genetic counselor.
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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