HomeGeneticsGeneDSC2 gene
Back to Gene
DSC2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DSC2 gene

The DSC2 gene provides instructions for making the desmocollin-2 protein, a key component of desmosomes that maintain the structural integrity of heart muscle and skin.

Normal Function

The DSC2 gene provides instructions for making a protein called desmocollin-2. This protein is found in many tissues, although it appears to be particularly important in the heart muscle and skin. Desmocollin-2 is a major component of specialized structures called desmosomes. 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).

Health Conditions Related to Genetic Changes

Keratoderma with woolly hair

At least one mutation in the DSC2 gene has been found to cause a form of keratoderma with woolly hair classified as type III. It is characterized by thick, calloused skin on the palms of the hands and soles of the feet (palmoplantar keratoderma); coarse, dry, fine, and tightly curled hair; and a potentially life-threatening form of heart disease called arrhythmogenic right ventricular cardiomyopathy (ARVC).

The known mutation, which is written as 1841delG, deletes one DNA building block (base pair) from the DSC2 gene. The resulting abnormal version of the desmocollin-2 protein alters the structure of desmosomes, 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. Over time, as these tissues are exposed to mechanical stress, they become damaged and can no longer function normally.

Arrhythmogenic right ventricular cardiomyopathy

Several other mutations in the DSC2 gene cause ARVC without palmoplantar keratoderma or woolly hair. It is unclear why some mutations in this gene affect the skin and hair, while others do not.

Other Names for This Gene

  • ARVD11
  • cadherin family member 2
  • CDHF2
  • desmocollin-2 isoform Dsc2a preproprotein
  • desmocollin-2 isoform Dsc2b preproprotein
  • desmosomal glycoprotein II/III
  • DG2
  • DGII/III
  • DSC3

Frequently Asked Questions

Use gentle, fragrance‑free moisturizers to keep the palms and soles soft. Avoid harsh soaps and prolonged water exposure. For woolly hair, gentle brushing and protective hairstyles reduce breakage. If skin lesions become inflamed or ulcerated, consult a dermatologist for topical steroids or other anti‑inflammatory treatments.
You may notice palpitations, fainting spells, or a rapid heartbeat that occurs during exercise or even at rest. Other signs include shortness of breath, chest discomfort, or a feeling of fatigue that worsens with physical activity. If any of these symptoms arise, seek prompt evaluation by a cardiologist, ideally with an electrophysiology specialist.
sk your healthcare provider to order a targeted DSC2 mutation panel, which can be done via a blood draw. Discuss the possibility of cascade testing for first‑degree relatives. A positive result confirms a pathogenic variant; it means your relatives may also carry the mutation and should consider screening for heart rhythm abnormalities and skin changes.
Limit high‑intensity or competitive sports that place sudden stress on the heart. Engage in moderate aerobic exercise under medical supervision, maintain a heart‑healthy diet low in saturated fats, and avoid stimulants such as caffeine or nicotine. Regular cardiac monitoring (ECG, echocardiogram, or Holter) is essential to detect early changes.
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.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss