Disease-gene associations mined from literature

Literature associating LRAT and Leber congenital amaurosis

LRAT [ENSP00000337224]

Lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase); 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; Belongs to the H-rev107 family.

Synonyms:  LRAT,  D6RC94,  O95237,  D6RC94p,  hD6RC94 ...

Linkouts:  STRING  Pharos  UniProt  OMIM