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

TYR gene

The TYR gene provides instructions for the enzyme tyrosinase, which is the primary driver of melanin production in the body.

Normal Function

The TYR gene provides instructions for making an enzyme called tyrosinase. This enzyme is located in melanocytes, the cells responsible for producing melanin, the pigment that gives color to skin, hair, and eyes. Melanin is also present in the retina, where it is necessary for normal vision.

Tyrosinase facilitates the first step of melanin production by converting the amino acid tyrosine into dopaquinone. Through a series of subsequent chemical reactions, dopaquinone is converted into melanin in the skin, hair follicles, iris, and retina.

Health Conditions Related to Genetic Changes

Oculocutaneous albinism

More than 100 mutations in the TYR gene have been identified in individuals with oculocutaneous albinism type 1, a condition that reduces melanin production and causes vision problems.

  • Type 1A (OCA1A): Most mutations eliminate tyrosinase activity entirely, preventing any melanin production. Individuals have white hair, light-colored eyes, and very pale skin that does not tan.
  • Type 1B (OCA1B): Other mutations reduce but do not eliminate tyrosinase activity, allowing for some melanin production. While individuals are born with white hair and pale skin, their hair and eye color may darken over time, and their skin may tan.

Melanoma

The TYR gene is also associated with information regarding melanoma.

Other Names for This Gene

  • LB24-AB
  • Monophenol monooxygenase
  • OCA1A
  • OCAIA
  • SK29-AB
  • Tumor Rejection Antigen AB
  • TYRO_HUMAN

Frequently Asked Questions

Testing can be done on chorionic villus samples (10‑12 weeks) or amniotic fluid (15‑18 weeks) for prenatal diagnosis, or on embryos created via IVF for pre‑implantation genetic testing (PGT‑M). The laboratory looks for the specific pathogenic TYR variant identified in the family; results guide reproductive decisions.
People with albinism should see an ophthalmologist at least once a year for a comprehensive eye exam that includes visual acuity testing, refraction, assessment for nystagmus, strabismus, and retinal imaging. Early detection of refractive errors, cataracts, or macular abnormalities allows timely prescription of glasses, contact lenses, or low‑vision aids.
No. OCA1A results from mutations that completely eliminate tyrosinase activity, so melanin cannot be produced at any time. Individuals with OCA1A retain white hair, very pale skin, and light-colored eyes throughout life, and they do not tan.
Most TYR variants that cause albinism reduce melanin protection, which modestly raises melanoma risk compared to the general population. Individuals should perform regular skin self‑exams monthly, have a dermatologist perform a full skin check annually, and use broad‑spectrum sunscreen daily. If there is a personal or family history of melanoma, more frequent dermatologist visits (every 6 months) are advisable.
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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