RDH8

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Description

The RDH8 (retinol dehydrogenase 8) is a protein-coding gene located on chromosome 19.

Retinol dehydrogenase 8 is an enzyme encoded by the RDH8 gene in humans. It is a visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol using NADPH. It is a member of the short chain dehydrogenase/reductase family and is located in the outer segments of the photoreceptor cells, hence it is also known as photoreceptor retinol dehydrogenase. Its role in the visual cycle is to begin the rhodopsin regeneration pathway by reducing all-trans-retinal, the product of bleached and hydrolysed rhodopsin.

RDH8 is also known as PRRDH, SDR28C2.

Associated Diseases

• lysosomal storage disease
• Parkinson disease
• Alzheimer disease
• multiple sclerosis
• ovarian cancer
• retinal degeneration
• myopia
• Stargardt disease
• dry age related macular degeneration
• severe early-childhood-onset retinal dystrophy
• schizophrenia
• cancer
• retinitis pigmentosa