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.
Immunogen Information
Immunogen
Fusion protein of human LRAT
Swissprot
O95237
Synonyms
LCA14Lecithin retinol acyltransferase (phosphatidylcholine retinol O acyltransferase)Lecithin retinol acyltransferaseLRATLRATPhosphatidylcholine retinol O acyltransferasePhosphatidylcholine--retinol O-acyltransferase