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DSG4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DSG4 gene

The DSG4 gene provides instructions for making the desmoglein 4 protein, which is essential for cell adhesion and signaling within hair follicles and skin.

Normal Function

The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4). This protein is found in specialized structures called desmosomes that are located in the membrane surrounding certain cells. Desmosomes help attach cells to one another and play a role in communication between cells. The DSG4 protein is found in cells in certain regions of hair follicles, including the inner compartment of the hair strand (shaft) known as the cortex. In addition, the DSG4 protein is found in the upper layers of the skin where it provides strength and communicates signals for the skin cells to mature.

Health Conditions Related to Genetic Changes

Autosomal recessive hypotrichosis

At least 10 mutations in the DSG4 gene have been found to cause autosomal recessive hypotrichosis, a condition that results in sparse hair growth on the scalp, and less frequently, other parts of the body. A particular mutation that deletes a piece of genetic material in the DSG4 gene (written as Ex5_8) is a common cause of the condition in individuals of Pakistani ancestry. This mutation impairs the protein's ability to help cells attach to one another. Other DSG4 gene mutations result in the production of abnormal DSG4 proteins that cannot communicate signals between cells within hair follicles or skin, leading to fragile hair that breaks easily.

Monilethrix

Mutations in the DSG4 gene have been found in people with monilethrix, a hair condition characterized by strands of hair with a beaded appearance. The hair is also short, brittle and breaks easily. The mutations associated with this condition can affect any part of the DSG4 protein, but these changes typically alter the extracellular domain, which is the region of the protein outside the cell that interacts with other cells. It is unknown why some individuals with DSG4 gene mutations develop monilethrix and others develop autosomal recessive hypotrichosis; these conditions may represent different forms of the same disorder.

Other Names for This Gene

  • cadherin family member 13
  • CDGF13
  • CDH family member 13
  • CDHF13
  • desmoglein-4
  • DSG4_HUMAN
  • LAH

Frequently Asked Questions

The condition results from mutations that impair DSG4’s role in hair follicle cell adhesion, leading to reduced hair shaft formation. Diagnosis involves a clinical exam of hair density, a scalp biopsy to assess follicular structure, and genetic testing for DSG4 mutations, especially the Ex5_8 deletion in certain populations.
The Ex5_8 deletion disrupts DSG4 protein production, weakening hair shaft integrity and causing sparse, fragile hair. While there is no cure, topical minoxidil, low‑dose oral finasteride, and low‑level laser therapy may modestly improve hair density. Hair transplantation is rarely effective due to underlying follicular defects.
certified genetic counselor can discuss recurrence risk (25% for each pregnancy in autosomal recessive inheritance), offer carrier testing for partners, and explain options such as pre‑implantation genetic diagnosis or prenatal testing via chorionic villus sampling or amniocentesis.
Monilethrix presents with a beaded, brittle hair shaft that breaks at regular intervals, whereas hypotrichosis shows uniformly sparse, fine hair. Treatment for monilethrix focuses on protecting fragile strands with gentle handling, while hypotrichosis management centers on stimulating follicle activity with topical agents and addressing any underlying genetic causes.
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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