LRAT
Description
The LRAT (lecithin retinol acyltransferase) is a protein-coding gene located on chromosome 4.
LRAT may refer to:
LRAT catalyzes the transfer of an acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, resulting in the formation of all-trans retinyl esters (PubMed:9920938). These esters serve as storage forms of vitamin A (Probable). LRAT plays a crucial role in vision (Probable), providing the all-trans retinyl ester substrates for the isomerohydrolase enzyme. This enzyme converts the esters into 11-cis-retinol within the retinal pigment epithelium. Subsequently, a membrane-associated alcohol dehydrogenase oxidizes and converts 11-cis-retinol into 11-cis-retinaldehyde, the chromophore essential for rhodopsin and cone photopigments (Probable). LRAT is necessary for the survival of cone photoreceptors and the maintenance of proper rod photoreceptor cell morphology (By similarity). {ECO:0000250|UniProtKB:Q9JI60, ECO:0000269|PubMed:9920938, ECO:0000305|PubMed:9920938}
LRAT is also known as LCA14.
Associated Diseases
- Leber congenital amaurosis
- Leber congenital amaurosis 14
- Severe early-childhood-onset retinal dystrophy
- Retinitis pigmentosa
