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TYRP1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TYRP1 gene

The TYRP1 gene provides instructions for creating an enzyme essential for melanin production and the development of pigment-producing cells.

Normal Function

The TYRP1 gene provides instructions for making an enzyme called tyrosinase-related protein 1. This enzyme is located in melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color and plays a role in normal vision within the retina.

While the exact functions of tyrosinase-related protein 1 are still being studied, it is involved in the production of melanin. Research suggests this enzyme may help stabilize tyrosinase, the enzyme responsible for the first step in melanin production. Additionally, it may help determine the shape of melanosomes, the structures within melanocytes where melanin is produced.

Health Conditions Related to Genetic Changes

Oculocutaneous albinism

Mutations in the TYRP1 gene can cause oculocutaneous albinism type 3. This includes a form known as rufous oculocutaneous albinism, primarily described in dark-skinned individuals from southern Africa.

  • Symptoms: Affected individuals typically have reddish-brown skin, ginger or red hair, and hazel or brown irises.
  • Genetic Causes: Most mutations lead to the production of an abnormally short, nonfunctional version of the enzyme. Known mutations include:
    • Ser166Ter (S166X): Replaces an amino acid with a signal that prematurely stops protein production.
    • 368delA: Deletes a single DNA building block from the gene.

Melanoma

The TYRP1 gene is also associated with information regarding melanoma.

Other Names for This Gene

  • b-PROTEIN
  • CAS2
  • Catalase B
  • CATB
  • DHICA oxidase
  • Glycoprotein 75
  • GP75
  • TRP
  • TRP-1
  • tyrosinase-related protein 1
  • TYRP
  • TYRP1_HUMAN

Frequently Asked Questions

People with albinism have markedly reduced melanin protection, increasing the risk for basal cell, squamous cell, and melanoma skin cancers. Annual full‑body skin exams by a dermatologist are advised, along with monthly self‑exams. Sun‑protective measures—broad‑spectrum sunscreen (SPF 30+), protective clothing, and avoidance of peak UV hours—are critical to lower cancer risk.
Common TYRP1 variants identified in genome‑wide studies have modest associations with melanoma susceptibility, but the effect size is small. Only loss‑of‑function mutations that cause OCA3 dramatically alter melanin production. For most carriers without albinism, standard melanoma prevention (sun protection, skin checks) is sufficient; there is no need for intensified surveillance solely based on a TYRP1 variant.
TYRP1‑related OCA3 follows an autosomal recessive inheritance. Both parents must carry one pathogenic copy; each pregnancy carries a 25 % chance of an affected child, a 50 % chance of a carrier, and a 25 % chance of an unaffected non‑carrier. Prenatal testing (CVS or amniocentesis) or pre‑implantation genetic testing can detect the specific TYRP1 mutations if the parental carrier status is known.
Vision in OCA3 is typically reduced from birth because melanin deficiency affects retinal development and optic nerve wiring. While some visual acuity may improve slightly with visual therapy, most patients need lifelong support: prescription glasses or contact lenses for refractive errors, low‑vision aids, and protection from bright light using sunglasses or tinted lenses. Regular ophthalmology follow‑up is essential.
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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