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Lecithin retinol acyltransferase is an enzyme that in humans is encoded by the LRATgene.[5][6]
Function
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.[6]
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.[7]
Herr FM, Ong DE (1992). "Differential interaction of lecithin-retinol acyltransferase with cellular retinol binding proteins". Biochemistry. 31 (29): 6748–55. doi:10.1021/bi00144a014. PMID1322170.
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.
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. S2CID19391022.
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.
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.
This page was last edited on 28 October 2022, at 03:43