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RP2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RP2 gene

The RP2 gene provides instructions for making a protein essential for normal vision, though its exact function remains a subject of ongoing study.

Normal Function

The RP2 gene provides instructions for making a protein that is essential for normal vision. The RP2 protein is active in cells throughout the body, including cells that make up the light-sensitive tissue at the back of the eye, known as the retina. While the specific function of the RP2 protein is not fully understood, studies suggest it may be involved in transporting proteins within the retina's specialized light receptor cells, called photoreceptors. Its role in other types of cells remains unknown.

Health Conditions Related to Genetic Changes

Retinitis pigmentosa

The RP2 gene is associated with Retinitis pigmentosa, a condition involving the progressive loss of vision.

Genomic Location

The RP2 gene is found on the X chromosome.

Other Names for This Gene

  • NM23-H10
  • NME10
  • TBCCD2

Frequently Asked Questions

Sequencing of the RP2 gene is recommended, often as part of an X‑linked retinitis pigmentosa panel. If a mutation is identified, carrier testing for female relatives and prenatal testing for at‑risk pregnancies can be offered.
RP2 mutations disrupt protein trafficking in photoreceptor cells, leading to gradual photoreceptor death. This manifests as night blindness, loss of peripheral vision, and eventually central vision loss as the disease progresses. Early symptoms often include difficulty seeing in low light and a “tunnel‑vision” effect.
Gene‑replacement therapy using adeno‑associated virus vectors is under investigation in early‑phase trials for RP2 mutations. Supportive treatments such as low‑vision aids, vitamin A supplementation, and retinal prostheses are also used to preserve remaining vision while research progresses.
Males (hemizygous) are typically affected, while females (heterozygous) are usually carriers with a 50 % chance of passing the mutation to offspring. Carrier females may have mild visual symptoms. Genetic counseling can help families understand recurrence risks and discuss options such as pre‑implantation genetic diagnosis.
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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