LRAT( Human )

Entrez Gene 9227 Entrez Gene 9227
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)

Alias

LCA14

The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014].

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