LRAT, Official Symbol LRATprovided by HGNC Official Full Name lecithin retinol acyltransferaseprovided by HGNC Primary source HGNC:HGNC:6685 See related Ensembl:ENSG00000121207 MIM:604863; AllianceGenome:HGNC:6685 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LCA14 Summary 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] Expression Biased expression in duodenum (RPKM 4.0), small intestine (RPKM 3.3) and 6 other tissues See more Orthologs mouse all