RALDH3

RALDH3, also known as retinaldehyde dehydrogenase 3, is an enzyme encoded by the RALDH3 gene in humans. This enzyme plays a critical role in the visual cycle and vitamin A metabolism. Specifically, RALDH3 is responsible for the oxidation of retinaldehyde to retinoic acid. Retinaldehyde is a form of vitamin A that is essential for vision, and retinoic acid is a signaling molecule involved in cell growth, differentiation, and development.

The RALDH3 enzyme belongs to the aldehyde dehydrogenase superfamily. It is primarily expressed in the retinal pigment epithelium (RPE), a layer of cells in the eye that supports the photoreceptor cells responsible for vision. In the RPE, RALDH3 is involved in the regeneration of the visual pigment rhodopsin, a process that requires the continuous supply of retinoic acid.

Mutations in the RALDH3 gene have been linked to certain forms of eye disorders, including some types of retinitis pigmentosa and Leber congenital amaurosis. These genetic defects can impair the enzyme's function, leading to a buildup of retinaldehyde and a deficiency of retinoic acid, which can ultimately result in vision loss. Research into RALDH3 and its role in the visual cycle continues to advance our understanding of retinal diseases and potential therapeutic strategies.