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GPR143 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GPR143 gene

The GPR143 gene provides instructions for making a protein essential for the pigmentation of the eyes and skin, playing a critical role in melanosome maturation.

Normal Function

The GPR143 gene, also known as OA1, provides instructions for making a protein that is involved in the coloring (pigmentation) of the eyes and skin. This protein is made in the light-sensitive tissue at the back of the eye (the retina) and in skin cells. The GPR143 protein is part of a signaling pathway that controls the growth and maturation of melanosomes, which are cellular structures that produce and store a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. In the retina, this pigment also plays a critical role in normal vision.

Health Conditions Related to Genetic Changes

Ocular albinism

More than 60 GPR143 mutations have been identified in people with the most common form of ocular albinism, which is called the Nettleship-Falls type or type 1. Most mutations alter the size or shape of the GPR143 protein. These genetic changes often prevent the abnormal protein from ever reaching melanosomes, where it is needed to control the growth of these pigment-containing structures. In other cases, the GPR143 protein reaches melanosomes normally but mutations prevent the protein from interacting with other molecules in its signaling pathway.

Without functional GPR143 protein, melanosomes in skin cells and the retina can grow abnormally large. It is unclear how these giant melanosomes (macromelanosomes) are related to vision loss and other eye abnormalities in people with ocular albinism. Most forms of albinism result from a reduced amount of melanin pigment within cells. Researchers continue to study why ocular albinism occurs when cells in the retina appear to contain a substantial amount of melanin. It is possible that this pigment is concentrated into a few abnormal macromelanosomes instead of being evenly distributed among many normal-sized melanosomes within the cell.

Other Names for This Gene

  • GP143_HUMAN
  • OA1
  • ocular albinism 1 (Nettleship-Falls)
  • ocular albinism type 1 protein

Frequently Asked Questions

Diagnosis is based on clinical examination, fundus photography, and optical coherence tomography to assess retinal structure. Genetic testing for pathogenic variants in the GPR143 gene confirms the diagnosis and helps differentiate type 1 from other albinism forms.
Yes, patients often have mild hypopigmentation of the skin and increased sensitivity to UV light. Regular use of broad‑spectrum sunscreen, protective clothing, and limiting sun exposure during peak hours help prevent sunburn and skin damage.
Common ocular findings include nystagmus, reduced visual acuity, foveal hypoplasia, iris transillumination defects, and a higher risk of retinal detachment or choroidal neovascularization. These features often manifest early in childhood.
Low‑vision aids, corrective lenses, and regular ophthalmic follow‑ups are recommended. Protective sunglasses reduce glare, and early detection of retinal detachment is critical. Some patients benefit from refractive surgery or laser treatment for associated abnormalities.
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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