Lecithin Retinol Acyltransferase (LRAT)

Phosphatidylcholine--Retinol O-Acyltransferase

SPN	P016
HGNC	6685
MGI	1891259
PubMed	14684738
RGD	68362
UniProt	O95237
Wiki	LRAT

Lecithin Retinol Acyltransferase is a microsomal enzyme that catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester, an essential reaction for the retinoid cycle in visual system and vitamin A status in liver. Mutations in this gene have been associated with early-onset severe retinal dystrophy.

The predicted 230-amino acid human LRAT protein contains 2 putative transmembrane domains. Western blot analysis detected an approximately 25- to 26-kD LRAT protein in human RPE cells; the calculated molecular mass of LRAT is 25.3 kD. Northern blot analysis detected a major 5.0-kb LRAT transcript in several human tissues, particularly those known for their high vitamin A-processing activity. In fetal tissues, LRAT was expressed in the RPE and liver, and slightly in brain.

Reference

"Molecular and biochemical characterization of lecithin retinol acyltransferase."
J. Biol. Chem. 274:3834-3841(1999) [PubMed] [Europe PMC] [Abstract]

"Cloning, gene organization and identification of an alternative splicing process in lecithin:retinol acyltransferase cDNA from human liver."
Gene 341:181-188(2004) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Lecithin retinol acyltransferase contains cysteine residues essential for catalysis."
Biochemistry 39:5215-5220(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays."
Invest. Ophthalmol. Vis. Sci. 48:5690-5698(2007) [PubMed] [Europe PMC] [Abstract]

"Lecithin: retinol acyltransferase protein is distributed in both hepatic stellate cells and endothelial cells of normal rodent and human liver."
Liver Int. 29:47-54(2009) [PubMed] [Europe PMC] [Abstract]

"Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy."
Nat. Genet. 28:123-124(2001) [PubMed] [Europe PMC] [Abstract]

"Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis."
Am. J. Ophthalmol. 142:702-704(2006) [PubMed] [Europe PMC] [Abstract]