Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 04
AIPL1

Referenzen:

1.

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

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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.

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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5.

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

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6.

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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7.

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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8.

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

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9.

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

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10.

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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11.

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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12.

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

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Update: 26. September 2018