靶标:
LRAT
产品别名:
LCA14; LRAT; lecithin retinol acyltransferase; lecithin retinol acyltransferase; lecithin retinol acyltransferase; lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase); 卵磷脂视黄醇酰基转移酶; 卵磷脂视黄醇酰基转移酶(LRAT);
背景信息:
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)(LRAT) Homo sapiens 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],