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CTNND2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CTNND2 gene

The CTNND2 gene provides instructions for making delta-catenin, a protein that plays a crucial role in the nervous system, particularly in neuronal migration and synaptic function.

Normal Function

The CTNND2 gene provides instructions for making a protein called delta-catenin. This protein is active in the nervous system, where it helps cells stick together (cell adhesion) and plays a role in cell movement. In the developing brain, it may help guide nerve cells to their proper positions through a process known as neuronal migration.

In mature nerve cells, delta-catenin is located in dendrites, which are specialized outgrowths that receive information from nearby nerve cells. Delta-catenin appears to play a crucial role in the function of synapses, the junctions where cell-to-cell communication occurs.

Health Conditions Related to Genetic Changes

Cri-du-chat syndrome

The CTNND2 gene is located in a region of chromosome 5 that is often deleted in people with cri-du-chat syndrome. Many individuals with this condition are missing one copy of the CTNND2 gene in each cell. Researchers suspect that the loss of this gene may cause severe intellectual disability by disrupting neuronal migration during early brain development. Individuals with this syndrome who do not have a deletion of the CTNND2 gene typically experience milder intellectual disability or have normal intelligence.

Other Names for This Gene

  • catenin (cadherin-associated protein), delta 2
  • CTND2_HUMAN
  • GT24
  • neural plakophilin-related armadillo-repeat protein
  • neurojungin
  • NPRAP

Genomic Location

The CTNND2 gene is found on chromosome 5.

Frequently Asked Questions

The CTNND2 gene makes delta‑catenin, a protein that helps neurons migrate to the right place and form functional synapses. When one copy is missing (as in many cases of cri‑du‑chat syndrome), neuronal pathways can be disrupted, leading to severe intellectual disability. Children who retain at least one functional copy of CTNND2 often have milder cognitive impairment or normal intelligence, indicating that the gene’s dosage is a key factor in neurodevelopmental outcome.
Most deletions that cause cri‑du‑chat syndrome are de novo (new) events, so the recurrence risk for siblings is low (generally <1%). However, if a parent carries a balanced rearrangement involving chromosome 5 that includes CTNND2, the risk can be higher (up to 10‑15%). Parental karyotype or microarray testing is recommended to determine carrier status and provide accurate counseling.
While there is no treatment that replaces delta‑catenin, early intensive interventions—such as speech and language therapy, occupational therapy, and individualized education programs—can maximize developmental potential. Some families benefit from neurodevelopmental specialists who monitor for seizures, feeding difficulties, and orthopedic issues that may accompany cri‑du‑chat syndrome. Regular multidisciplinary follow‑up is essential to address evolving needs.
chromosomal microarray (CMA) or high‑resolution SNP array can detect deletions that span CTNND2. If a specific mutation is suspected, targeted next‑generation sequencing (NGS) panels for neurodevelopmental disorders can also assess the gene. Most insurers cover CMA when there is a clinical indication such as developmental delay or dysmorphic features, but prior authorization may be required; checking with the lab’s billing department can clarify coverage.
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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