Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Lecithin retinol acyltransferase

The LRAT gene encodes an enzyme involved in retinol metabolism. Mutations cause autosomal recessive Leber congenital amaurosis type 14.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 14



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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NCBI article

NCBI 9227 external link

OMIM.ORG article

Omim 604863 external link

Orphanet article

Orphanet ID 168360 external link

Wikipedia article

Wikipedia EN (Lecithin_retinol_acyltransferase) external link
Update: Aug. 14, 2020
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