Aliases for LRAT Gene
External Ids for LRAT Gene
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]
GeneCards Summary for LRAT Gene
LRAT (Lecithin Retinol Acyltransferase (Phosphatidylcholine--Retinol O-Acyltransferase)) is a Protein Coding gene. Diseases associated with LRAT include leber congenital amaurosis 14 and lrat-related leber congenital amaurosis. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include transferase activity, transferring acyl groups and retinol binding.
UniProtKB/Swiss-Prot for LRAT Gene
Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments.