🧬 基因注释：LRAT
📝 官方信息
官方名称：lecithin retinol acyltransferase
功能摘要：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].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录