Lecithin retinol acyltransferase
The LRAT gene encodes an enzyme involved in retinol metabolism. Mutations cause autosomal recessive Leber congenital amaurosis type 14.
Genetests:
Related Diseases:
References:
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Xue L et al. (2004) A palmitoylation switch mechanism in the regulation of the visual cycle.
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Maeda T et al. (2009) Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.
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den Hollander AI et al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
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Thompson DA et al. (2001) Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.
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Sénéchal A et al. (2006) Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
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Ruiz A et al. (1999) Molecular and biochemical characterization of lecithin retinol acyltransferase.
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Ruiz A et al. (2001) Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium.
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8. |
NCBI article
NCBI 9227
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OMIM.ORG article
Omim 604863
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Orphanet article
Orphanet ID 168360
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Wikipedia article
Wikipedia EN (Lecithin_retinol_acyltransferase)
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Update: Aug. 14, 2020