RPE (gene)

Ideogram human chromosome 2

RPE (gene)

The RPE gene encodes a protein known as retinal pigment epithelium-specific protein. This gene is primarily expressed in the retinal pigment epithelium (RPE) of the eye. The RPE plays a crucial role in supporting the function of the retina by providing essential nutrients and removing waste products.

Function[edit | edit source]

The RPE gene is involved in various functions related to maintaining the health and integrity of the retina. One of its key roles is in the visual cycle, where it helps in the regeneration of visual pigment molecules in the retina. This process is essential for normal vision and the ability to perceive light.

Clinical Significance[edit | edit source]

Mutations in the RPE gene have been associated with certain retinal diseases such as retinitis pigmentosa and age-related macular degeneration. These conditions can lead to vision loss and impairment due to the dysfunction of the RPE and its impact on the retina.

Research[edit | edit source]

Research on the RPE gene continues to provide insights into the molecular mechanisms underlying retinal diseases. Understanding the function of this gene is crucial for developing potential therapies and treatments for conditions affecting the retina.