Lecithin-Retinol-Acyltransferase
Das LRAT-Gen kodiert ein Enzym des Retinol-Stoffwechsels. Mutationen verursachen Lebersche kongenitale Amaurose Typ 14.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Xue L et al. (2004) A palmitoylation switch mechanism in the regulation of the visual cycle.
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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.
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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.
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4. |
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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5. |
Sénéchal A et al. (2006) Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
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6. |
Ruiz A et al. (1999) Molecular and biochemical characterization of lecithin retinol acyltransferase.
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7. |
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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9. |
OMIM.ORG article
Omim 604863
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10. |
Orphanet article
Orphanet ID 168360
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11. |
Wikipedia Artikel
Wikipedia DE (Lecithin-Retinol-Acyltransferase)
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Update: 14. August 2020