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

JUP gene

The JUP gene provides instructions for making the plakoglobin protein, which is essential for maintaining the structural integrity of heart and skin tissues.

Normal Function

The JUP gene provides instructions for making a protein called plakoglobin. This protein is found primarily in cells of the heart and skin, where it is part of two specialized structures called adherens junctions and desmosomes. Both of these structures help hold neighboring cells together, which provides strength and stability to tissues. Desmosomes may also be involved in other critical cell functions, including chemical signaling pathways, the process by which cells mature to perform specific functions (differentiation), and the self-destruction of cells (apoptosis).

Studies suggest that plakoglobin also plays a role in signaling within cells as part of the Wnt pathway. Wnt signaling controls the activity of certain genes and regulates the interactions between cells. This signaling pathway is involved in many aspects of development, including the normal development of the heart, skin, and hair.

Health Conditions Related to Genetic Changes

Arrhythmogenic right ventricular cardiomyopathy

MedlinePlus Genetics provides information about Arrhythmogenic right ventricular cardiomyopathy.

Keratoderma with woolly hair

Several mutations in the JUP gene have been found to cause a form of keratoderma with woolly hair classified as type I, also known as Naxos disease. This condition is characterized by:

  • Thick, calloused skin on the palms of the hands and soles of the feet (palmoplantar keratoderma)
  • Coarse, dry, fine, tightly curled, and sometimes sparse hair
  • A potentially life-threatening form of heart disease called arrhythmogenic right ventricular cardiomyopathy (ARVC)

Mutations in the JUP gene lead to the production of an abnormally short version of the plakoglobin protein. This abnormal protein does not interact appropriately with other desmosomal proteins, altering the structure of desmosomes and preventing cells from attaching to one another effectively. Researchers suspect that the impaired connections between cells make the skin, hair, and heart muscle more fragile, leading to damage over time as these tissues are exposed to mechanical stress. Additionally, the short plakoglobin may impair Wnt signaling, causing heart muscle cells to be replaced with fat cells, which may influence the development of ARVC.

Other disorders

JUP gene mutations have been found to cause a spectrum of signs and symptoms that overlap with keratoderma with woolly hair type I. Some families exhibit skin and hair abnormalities without heart problems, while others have ARVC only. Additionally, at least one mutation can cause lethal congenital epidermolysis bullosa (LCEB), characterized by very fragile skin that blisters and detaches easily, a complete absence of hair (alopecia), and abnormal fingernails. This mutation prevents the production of any functional plakoglobin, leading to a lack of stable desmosomes in the skin.

Genomic Location

The JUP gene is found on chromosome 17.

Frequently Asked Questions

The first warning signs of arrhythmogenic right ventricular cardiomyopathy (ARVC) include unexplained palpitations, fainting (syncope) especially during exercise, and a family history of sudden cardiac death. An electrocardiogram showing epsilon waves, ventricular tachycardia originating from the right ventricle, or imaging that reveals right‑ventricular dilation or wall motion abnormalities should trigger urgent referral to a cardiologist experienced in ARVC.
Palmoplantar keratoderma can be softened with daily emollients containing urea or salicylic acid, and periodic keratolytic therapy (e.g., topical retinoids) may reduce callus formation. For severe hyperkeratosis, a dermatologist may prescribe systemic retinoids such as acitretin, monitoring liver function and lipid levels. Woolly hair is usually a cosmetic issue; gentle hair care, moisturizing shampoos, and avoiding heat styling can improve texture, but no medication reliably restores normal hair growth. Genetic counseling is recommended for families dealing with these cutaneous signs.
While a pathogenic JUP mutation predisposes to ARVC, several measures can lower the likelihood of disease progression or sudden events: avoid high‑intensity or competitive endurance sports, maintain a heart‑healthy diet low in saturated fat, and keep blood pressure and cholesterol in target ranges. Beta‑blockers are often prescribed to blunt arrhythmias, and some patients benefit from an implantable cardioverter‑defibrillator (ICD) if they develop ventricular arrhythmias or have a markedly reduced ejection fraction. Regular cardiac imaging (e.g., MRI) every 1–2 years helps guide therapy.
Naxos disease follows an autosomal‑recessive pattern. Both parents must pass a pathogenic JUP allele for a child to be affected. If you are a carrier (one mutated copy) you do not develop the disease, but each of your children has a 50 % chance of being a carrier and a 0 % chance of being affected unless the other parent also carries a pathogenic JUP variant. If both parents are carriers, each pregnancy has a 25 % chance of an affected child, a 50 % chance of a carrier, and a 25 % chance of having two normal alleles.
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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