RDH14

Ideogram human chromosome 2

RDH14

RDH14 is a gene that encodes a protein known as retinol dehydrogenase 14. This protein is involved in the process of converting retinol, also known as vitamin A, into retinaldehyde. Retinaldehyde is a crucial component in the visual cycle, where it is converted into retinoic acid, a form of vitamin A that plays a key role in various biological processes.

Function

The RDH14 gene plays a critical role in the metabolism of vitamin A. The protein it encodes, retinol dehydrogenase 14, is responsible for catalyzing the oxidation of retinol to retinaldehyde. This conversion is essential for the production of retinoic acid, which acts as a signaling molecule in various cellular processes, including cell growth, differentiation, and development.

Clinical Significance

Mutations in the RDH14 gene have been associated with certain genetic disorders, such as retinitis pigmentosa, a group of inherited retinal diseases that can lead to vision loss and blindness. Studies have shown that disruptions in the function of retinol dehydrogenase 14 can impair the visual cycle and contribute to the development of retinal degeneration.

Research

Research on RDH14 and its role in vitamin A metabolism is ongoing. Scientists are investigating how mutations in this gene impact retinal function and exploring potential therapeutic strategies to treat retinal diseases associated with RDH14 mutations.

See also

• Retinol
• Retinaldehyde
• Retinoic acid
• Retinitis pigmentosa