{"symbol":"LRAT","synonyms":["LCA14"],"name":"lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)","description":"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]","ncbiEntrezGeneId":9227,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9227","proteins":[{"symbol":"LRAT_HUMAN","href":"/api/1.0/protein/LRAT_HUMAN"}],"hgncRootFamilies":[]}