Lecithin retinol acyltransferase is a microsomal enzyme that catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester during phototransduction, an essential reaction for the retinoid cycle in visual system and vitamin A status in liver.
Clinical significance
Mutations in this gene have been associated with early-onset severe retinal dystrophy.[2]
LRAT was overexpressed in colorectal cancer cells compared to normal colonic epithelium. Strong LRAT expression was associated with a poor prognosis in patients with colorectal cancer.[3]
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Mata NL, Tsin AT (1998). "Distribution of 11-cis LRAT, 11-cis RD and 11-cis REH in bovine retinal pigment epithelium membranes". Biochim. Biophys. Acta. 1394 (1): 16–22. doi:10.1016/s0005-2760(98)00078-2. PMID9767084.
Mondal MS, Ruiz A, Bok D, Rando RR (2000). "Lecithin retinol acyltransferase contains cysteine residues essential for catalysis". Biochemistry. 39 (17): 5215–20. doi:10.1021/bi9929554. PMID10819989.
Ruiz A, Kuehn MH, Andorf JL, et al. (2001). "Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium". Invest. Ophthalmol. Vis. Sci. 42 (1): 31–7. PMID11133845.
Andreola F, Giandomenico V, Spero R, De Luca LM (2001). "Expression of a smaller lecithin:retinol acyl transferase transcript and reduced retinol esterification in MCF-7 cells". Biochem. Biophys. Res. Commun. 279 (3): 920–4. doi:10.1006/bbrc.2000.3995. PMID11162450.
Thompson DA, Li Y, McHenry CL, et al. (2001). "Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy". Nat. Genet. 28 (2): 123–4. doi:10.1038/88828. PMID11381255.
Jahng WJ, Cheung E, Rando RR (2002). "Lecithin retinol acyltransferase forms functional homodimers". Biochemistry. 41 (20): 6311–9. doi:10.1021/bi015710b. PMID12009892.
Zhan HC, Gudas LJ, Bok D, et al. (2004). "Differential expression of the enzyme that esterifies retinol, lecithin:retinol acyltransferase, in subtypes of human renal cancer and normal kidney". Clin. Cancer Res. 9 (13): 4897–905. PMID14581364.
Jahng WJ, Xue L, Rando RR (2004). "Lecithin retinol acyltransferase is a founder member of a novel family of enzymes". Biochemistry. 42 (44): 12805–12. doi:10.1021/bi035370p. PMID14596594.
Boorjian S, Tickoo SK, Mongan NP, et al. (2004). "Reduced lecithin: retinol acyltransferase expression correlates with increased pathologic tumor stage in bladder cancer". Clin. Cancer Res. 10 (10): 3429–37. doi:10.1158/1078-0432.CCR-03-0756. PMID15161698.
Zolfaghari R, Ross AC (2005). "Cloning, gene organization and identification of an alternative splicing process in lecithin:retinol acyltransferase cDNA from human liver". Gene. 341: 181–8. doi:10.1016/j.gene.2004.06.043. PMID15474300.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID16189514.
Sénéchal A, Humbert G, Surget MO, et al. (2006). "Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis". Am. J. Ophthalmol. 142 (4): 702–4. doi:10.1016/j.ajo.2006.04.057. PMID17011878.