Gene:
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
Description:
The protein encoded by this gene is a microsomal enzyme that catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester, an essential reaction for the retinoid cycle in visual system and vitamin A status in liver. Mutations in this gene have been associated with early-onset severe retinal dystrophy.