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CTNND1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CTNND1 gene

The CTNND1 gene provides instructions for making p120-catenin, a protein that regulates cell adhesion and the stability of E-cadherin in the cell membrane.

Normal Function

The CTNND1 gene provides instructions for making a protein called p120-catenin (also known as delta 1 catenin). This protein belongs to the catenin family, which interacts with cadherins to form protein complexes that help cells stick to neighboring cells (cell adhesion) to form organized tissues. These interactions also help transmit chemical signals, control cell maturation and movement, and regulate gene activity.

p120-catenin specifically interacts with E-cadherin, a protein produced from the CDH1 gene. p120-catenin helps maintain E-cadherin in the cell membrane of epithelial cells, preventing it from being taken into the cell through endocytosis and broken down prematurely. These interactions are vital for craniofacial development, including the development of the eyelids and teeth.

Health Conditions Related to Genetic Changes

Blepharocheilodontic syndrome

Mutations in the CTNND1 gene have been identified in people with blepharocheilodontic (BCD) syndrome, a disorder present at birth that causes abnormalities affecting the eyelids and mouth. These mutations are thought to prevent the production of p120-catenin or result in an unstable protein that breaks down quickly. A shortage of p120-catenin allows E-cadherin to be destroyed too rapidly, which disrupts normal craniofacial development and leads to the features of BCD syndrome.

Other Names for This Gene

  • cadherin-associated Src substrate
  • CAS
  • catenin (cadherin-associated protein), delta 1
  • CTNND
  • delta catenin
  • KIAA0384
  • p120
  • p120 catenin
  • p120(CAS)
  • p120(CTN)
  • P120CAS
  • P120CTN

Genomic Location

The CTNND1 gene is found on chromosome 11.

Frequently Asked Questions

CTNND1 encodes p120‑catenin, which stabilizes the cell‑adhesion protein E‑cadherin on the surface of epithelial cells. When CTNND1 is mutated, p120‑catenin is reduced or dysfunctional, leading to premature loss of E‑cadherin. This weakens cell‑cell adhesion during facial development, resulting in the characteristic cleft eyelids, lip pits, and tooth anomalies seen in BCD syndrome.
BCD syndrome caused by CTNND1 follows an autosomal‑dominant pattern. If the affected individual carries a pathogenic variant, each child has a 50 % chance of inheriting the mutation. Testing the unaffected partner is not required unless there is a family history of related disorders. However, prenatal testing (CVS or amniocentesis) or pre‑implantation genetic diagnosis (PGD) can be offered if the specific CTNND1 variant is known.
Currently, there is no therapy that restores p120‑catenin function. Management focuses on surgical correction of eyelid and lip defects, orthodontic or prosthetic dental care, and supportive therapies (speech, feeding). Research into modulators of the cadherin‑catenin pathway is ongoing, but clinical applications are not yet available. Early surgical intervention combined with regular developmental monitoring offers the best functional outcomes.
In addition to detailed craniofacial assessment, children should be screened for dental anomalies, hearing loss, and potential feeding difficulties. Because p120‑catenin also influences epithelial integrity in other organs, periodic ophthalmologic exams, gastrointestinal evaluations for reflux, and monitoring of growth parameters are advised. A multidisciplinary team—including genetics, dentistry, otolaryngology, and speech therapy—provides comprehensive care.
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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