Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Arylhydrocarbon-interagierendes Protein-like 1

Das AIPL1-Gen kodiert ein Chaperon. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 4.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 04
AIPL1

Referenzen:

1.

Tan MH et al. (2009) Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.

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2.

Sohocki MM et al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

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3.

Sohocki MM et al. (2000) Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

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4.

Kirschman LT et al. (2010) The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells.

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5.

Aboshiha J et al. (2015) Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy.

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6.

Sohocki MM et al. (1999) Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders.

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7.

van der Spuy J et al. (2002) The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.

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8.

Akey DT et al. (2002) The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.

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9.

Ramamurthy V et al. (2003) AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins.

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10.

Liu X et al. (2004) AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase.

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11.

Ramamurthy V et al. (2004) Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase.

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12.

Makino CL et al. (2006) Effects of low AIPL1 expression on phototransduction in rods.

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13.

Orphanet article

Orphanet ID 119559 external link
14.

NCBI article

NCBI 23746 external link
15.

OMIM.ORG article

Omim 604392 external link
Update: 14. August 2020
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