Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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 |
| 1. |
Xue L et al. (2004) A palmitoylation switch mechanism in the regulation of the visual cycle. 
|
| 2. |
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.
|
| 3. |
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.
|
| 4. |
Thompson DA et al. (2001) Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.
|
| 5. |
Sénéchal A et al. (2006) Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
|
| 6. |
Ruiz A et al. (1999) Molecular and biochemical characterization of lecithin retinol acyltransferase.
|
| 7. |
Ruiz A et al. (2001) Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium.
|
| 8. |
NCBI article NCBI 9227
|
| 9. |
OMIM.ORG article Omim 604863
|
| 10. |
Orphanet article Orphanet ID 168360
|
| 11. |
Wikipedia article Wikipedia EN (Lecithin_retinol_acyltransferase)
|
 |
Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
