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    LRAT lecithin retinol acyltransferase [ Homo sapiens (human) ]

    Gene ID: 9227, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The c.541-15T>G mutation in LRAT results in aberrant splicing and is therefore predicted to be causal for the early onset retinitis pigmentosa in this family.

    A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa.
    Chen Y, Huang L, Jiao X, Riazuddin S, Riazuddin SA, Fielding Hetmancik J., Free PMC Article

    02/2/2019
    The genetic analysis performed on our proband showed a novel homozygous mutation on codon 119 of lecithin-cholesterol acyltransferase gene that causes the substitution of glycine by aspartate

    A novel homozygous mutation causing lecithin-cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia.
    Rial-Crestelo D, Santos-Recuero I, Julve J, Blanco-Vaca F, Torralba M.

    07/14/2018
    instability of LRAT(E14L) did not abrogate the production of the visual chromophore in a cell-based assay. Instead, expression of LRAT(E14L) led to a rapid increase in cellular levels of retinoic acid upon retinoid supplementation.

    Impact of LCA-Associated E14L LRAT Mutation on Protein Stability and Retinoid Homeostasis.
    Chelstowska S, Widjaja-Adhi MAK, Silvaroli JA, Golczak M., Free PMC Article

    09/2/2017
    LRAT hypermethylation was associated with decreased mRNA levels in colorectal cancer clinical specimens.

    High incidence of LRAT promoter hypermethylation in colorectal cancer correlates with tumor stage.
    Cheng YW, Pincas H, Huang J, Zachariah E, Zeng Z, Notterman DA, Paty P, Barany F., Free PMC Article

    10/24/2015
    lecithin retinol acyltransferase affects all-trans retinoic acid levels and has a role in retinoid sensitivity in malignant melanoma cells.

    Knockdown of lecithin retinol acyltransferase increases all-trans retinoic acid levels and restores retinoid sensitivity in malignant melanoma cells.
    Amann PM, Czaja K, Bazhin AV, Rühl R, Skazik C, Heise R, Marquardt Y, Eichmüller SB, Merk HF, Baron JM.

    07/25/2015
    These findings reveal structural adaptation that facilitates selective catalysis and mechanism responsible for diverse substrate specificity within the LRAT-like enzyme family

    LRAT-specific domain facilitates vitamin A metabolism by domain swapping in HRASLS3.
    Golczak M, Sears AE, Kiser PD, Palczewski K., Free PMC Article

    02/28/2015
    high LRAT expression in melanoma might be important in removing retinol as substrate for RA production, thereby inducing signalling pathways leading to dedifferentiation, proliferation and anti-apoptosis

    Lecithin retinol acyltransferase as a potential prognostic marker for malignant melanoma.
    Hassel JC, Amann PM, Schadendorf D, Eichmüller SB, Nagler M, Bazhin AV.

    10/18/2014
    Functional hepatic stellate cells coexpressing both LRAT and CRBP-1, that continue to maintain the ability to store vitamin A, contribute in part to the development of portal and parenchymal fibrogenesis in patients with viral hepatitis.

    Hepatic stellate cells that coexpress LRAT and CRBP-1 partially contribute to portal fibrogenesis in patients with human viral hepatitis.
    Nagatsuma K, Hano H, Murakami K, Shindo D, Matsumoto Y, Mitobe J, Tanaka K, Saito M, Maehashi H, Owada M, Ikegami M, Tsubota A, Ohkusa T, Aizawa Y, Takagi I, Tajiri H, Matsuura T.

    09/20/2014
    Lecithin-retinol acyltransferase is a thermostable and highly active enzyme with a likely mode of interfacial activation.

    Enzymatic activity of Lecithin:retinol acyltransferase: a thermostable and highly active enzyme with a likely mode of interfacial activation.
    Horchani H, Bussières S, Cantin L, Lhor M, Laliberté-Gemme JS, Breton R, Salesse C., Free PMC Article

    06/28/2014
    A genetic defect was identified in LRAT as a novel cause of retinitis punctata albescens.

    A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
    Littink KW, van Genderen MM, van Schooneveld MJ, Visser L, Riemslag FC, Keunen JE, Bakker B, Zonneveld MN, den Hollander AI, Cremers FP, van den Born LI.

    11/24/2012
    Data show that acyl-modified forms of HRAS-like tumor suppressors HRASLS2 and HRASLS3 mimicking lipolytic activity of lecithin retinol acyltransferase LRAT.

    Structural basis for the acyltransferase activity of lecithin:retinol acyltransferase-like proteins.
    Golczak M, Kiser PD, Sears AE, Lodowski DT, Blaner WS, Palczewski K., Free PMC Article

    10/13/2012
    LRAT mutations cause a severe, early childhood onset, progressive retinal dystrophy.

    Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
    Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT.

    09/29/2012
    This study showed that malignant melanoma cells are able to esterify all-trans retinol and subsequently isomerize all-trans retinyl esters (RE) into 11-cis retinol, whereas their benign counterparts-melanocytes are not able to catalyze these reactions.

    Vitamin A metabolism in benign and malignant melanocytic skin cells: importance of lecithin/retinol acyltransferase and RPE65.
    Amann PM, Luo C, Owen RW, Hofmann C, Freudenberger M, Schadendorf D, Eichmüller SB, Bazhin AV.

    02/4/2012
    Observational study of genetic testing. (HuGE Navigator)See all PubMed (2) articles

    Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
    Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ.

    Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
    Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.

    09/15/2010
    Observational study of gene-disease association. (HuGE Navigator)

    Intermediate phenotypes identify divergent pathways to Alzheimer's disease.
    Shulman JM, Chibnik LB, Aubin C, Schneider JA, Bennett DA, De Jager PL., Free PMC Article

    09/15/2010
    Data show that overexpression of human LRAT specifically in mice oral basal epithelial cells makes these cells more sensitive to carcinogen induced tumorigenesis.

    Overexpression of lecithin:retinol acyltransferase in the epithelial basal layer makes mice more sensitive to oral cavity carcinogenesis induced by a carcinogen.
    Tang XH, Su D, Albert M, Scognamiglio T, Gudas LJ., Free PMC Article

    05/10/2010
    transcriptional regulation is aberrant in human prostate cancer and involves GATA transcription factors in normal prostate epithelial cells

    Retinoic acid receptors and GATA transcription factors activate the transcription of the human lecithin:retinol acyltransferase gene.
    Cai K, Gudas LJ., Free PMC Article

    01/21/2010
    proximal region together with basal transcription factors may be sufficient to drive Lrat expression.

    An essential set of basic DNA response elements is required for receptor-dependent transcription of the lecithin:retinol acyltransferase (Lrat) gene.
    Zolfaghari R, Ross AC., Free PMC Article

    01/21/2010
    Lecithin: retinol acyltransferase protein is distributed in both hepatic stellate cells and endothelial cells of normal rodent and human liver.

    Lecithin: retinol acyltransferase protein is distributed in both hepatic stellate cells and endothelial cells of normal rodent and human liver.
    Nagatsuma K, Hayashi Y, Hano H, Sagara H, Murakami K, Saito M, Masaki T, Lu T, Tanaka M, Enzan H, Aizawa Y, Tajiri H, Matsuura T.

    01/21/2010
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

    A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.
    Abraham R, Moskvina V, Sims R, Hollingworth P, Morgan A, Georgieva L, Dowzell K, Cichon S, Hillmer AM, O'Donovan MC, Williams J, Owen MJ, Kirov G., Free PMC Article

    10/8/2008
    LRAT expression is higher in renal tumors with an indolent biological behavior

    Differential expression of the enzyme that esterifies retinol, lecithin:retinol acyltransferase, in subtypes of human renal cancer and normal kidney.
    Zhan HC, Gudas LJ, Bok D, Rando R, Nanus DM, Tickoo SK.

    01/21/2010
    Results provide evidence that multiple LRAT mRNA transcripts, which are expressed in a tissue-specific manner, may result from differential splicing of the 5'UTR region and the use of multiple polyadenylation signals in the 3'UTR.

    Cloning, gene organization and identification of an alternative splicing process in lecithin:retinol acyltransferase cDNA from human liver.
    Zolfaghari R, Ross AC., Free PMC Article

    01/21/2010
    The phenotype of patients with mutations in LRAT is similar to that of patients with mutations in RPE65, suggesting the need to systematically screen both genes in case of typical phenotype.

    Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
    Sénéchal A, Humbert G, Surget MO, Bazalgette C, Bazalgette C, Arnaud B, Arndt C, Laurent E, Brabet P, Hamel CP.

    01/21/2010
    Conserved residues Cys-161 and His-60 form the essential catalytic dyad of LRAT that represents a novel thiol protease motif, which functions in an acyltransferase reaction.

    Lecithin retinol acyltransferase is a founder member of a novel family of enzymes.
    Jahng WJ, Xue L, Rando RR., Free PMC Article

    01/21/2010
    These experiments are consistent with an expanded role for LRAT function as a protein palmitoyl transferase.

    Palmitoyl transferase activity of lecithin retinol acyl transferase.
    Xue L, Jahng WJ, Gollapalli D, Rando RR., Free PMC Article

    01/21/2010
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