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

LORICRIN gene

The LORICRIN gene provides instructions for making a protein that is a major component of the skin's protective outer barrier.

Normal Function

The LORICRIN gene is part of the epidermal differentiation complex on chromosome 1. These genes are responsible for the formation and maintenance of the epidermis, specifically the stratum corneum—the tough, outermost layer of the skin.

The LORICRIN gene produces the protein loricrin, a primary component of the cornified envelope. This protein shell surrounds each skin cell (corneocyte). By linking with other envelope components, loricrin helps hold cells together and provides the stratum corneum with its strength and barrier function.

Health Conditions Related to Genetic Changes

Vohwinkel syndrome

Mutations in the LORICRIN gene are associated with the variant form of Vohwinkel syndrome, also known as loricrin keratoderma.

  • Mechanism: The mutations alter the structure of the loricrin protein, causing it to become trapped inside the cell rather than reaching the cornified envelope.
  • Impact: Because the cornified envelope becomes thinner than normal, the skin loses its protective integrity.
  • Symptoms: This condition is characterized by widespread dry, scaly skin (ichthyosis), particularly on the limbs, along with other skin abnormalities.

Other Names for This Gene

  • LOR
  • LORI_HUMAN

Frequently Asked Questions

Infants may develop a diffuse, thick, dry, and scaly rash that covers the limbs and trunk, often appearing within the first few months of life. The skin may feel rough, and the rash may be more pronounced in areas that are frequently rubbed or exposed to friction. If you notice persistent scaling or redness that does not improve with standard moisturizers, a dermatology referral is advised.
DNA sample (usually a blood draw or cheek swab) is sent to a genetics laboratory for targeted sequencing of the LORICRIN gene. Prior to testing, a genetic counselor will discuss the purpose of the test, possible outcomes, and implications for family members. The test is typically covered by insurance if a clinical suspicion exists.
Use fragrance‑free, emollient‑rich moisturizers immediately after bathing to lock in moisture. Gentle cleansing with mild, non‑irritating soaps, avoiding hot water, and applying barrier creams (e.g., containing ceramides or urea) can reduce scaling. In severe cases, a dermatologist may prescribe topical retinoids or low‑dose oral retinoids under close supervision.
The condition follows an autosomal dominant inheritance pattern, meaning a single copy of the mutated gene can cause disease. If a parent carries the mutation, each child has a 50 % chance of inheriting it. At-risk family members can undergo targeted genetic testing to determine carrier status and receive early dermatologic care if needed.
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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