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TGM1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TGM1 gene

The TGM1 gene provides instructions for the enzyme transglutaminase 1, which is essential for creating the skin's protective barrier; mutations in this gene are the primary cause of lamellar ichthyosis.

Normal Function

The TGM1 gene provides instructions for making an enzyme called transglutaminase 1. This enzyme is found in cells that make up the outermost layer of the skin (the epidermis). Transglutaminase 1 is involved in the formation of the cornified cell envelope, a structure that surrounds skin cells and helps form a protective barrier between the body and its environment. Specifically, the enzyme forms strong bonds, called cross-links, between the structural proteins that make up the cornified cell envelope, providing strength and stability to the epidermis.

Health Conditions Related to Genetic Changes

Lamellar ichthyosis

Many mutations in the TGM1 gene have been found to cause lamellar ichthyosis, a condition characterized by scaly skin covering much of the body and other skin abnormalities. Mutations can result in an enzyme that cannot function normally, is abnormally short, or is not produced at all. A lack of functional transglutaminase 1 prevents the formation of the cornified cell envelope, leading to the skin abnormalities associated with this condition.

Other disorders

TGM1 gene mutations have been found to cause other forms of ichthyosis, including:

  • Self-healing collodion baby: Infants are born with a tight, clear sheath (collodion membrane) covering their skin, which usually dries and peels off within the first few weeks of life.
  • Bathing suit ichthyosis: A form of ichthyosis characterized by scaly skin that is limited to the trunk.

Frequently Asked Questions

Management focuses on regular moisturization with emollients, keratolytic agents (e.g., urea or salicylic acid creams) to reduce scaling, and occasional topical retinoids under dermatology supervision. In severe cases, oral retinoids (acitretin) may be prescribed, but they require monitoring for side effects.
Lamellar ichthyosis from TGM1 mutations follows an autosomal‑recessive pattern; both parents are typically carriers. Each subsequent child has a 25 % chance of being affected, a 50 % chance of being a carrier, and a 25 % chance of being unaffected. Carrier testing for siblings and prenatal testing are options after genetic counseling.
The severity often lessens with age; scaling may become less extensive, and the skin barrier can improve with consistent care. However, the condition is generally lifelong, and ongoing skin management is needed to prevent infections and maintain comfort.
collodion membrane is a classic sign of a self‑healing collodion baby, which is often caused by TGM1 mutations, but other genes can also be involved. Definitive diagnosis requires genetic testing of the infant’s DNA to identify pathogenic variants in TGM1 or related ichthyosis genes.
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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