Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

ATP-abhängiges Transportprotein G5

Das ABCG5-Gen befindet sich in einer Kopf-an-Kopf-Position zum ABCG8-Gen. Beide nutzen offensichtlich den selben Promotor und kodieren Transportproteine mit ähnlicher Funktion. Sie sind für die Exkretion von pflanzlichen Sterolen sowohl in die Gallenflüssigkeit wie auch in den Darm verantwortlich. Mutationen können zu den autosomal rezessiven Erkrankungen Sitosterolämia und Mediterrane Makrothrombozytopenie führen.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Sitosterolämia
ABCG5
ABCG8
Mediterrane Makrothrombozytopenie
ABCG5
ABCG8

Referenzen:

1.

Berge KE et. al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

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2.

Lee MH et. al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

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3.

Lu K et. al. (2001) Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

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4.

Repa JJ et. al. (2002) Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.

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5.

Lu K et. al. (2002) Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.

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6.

Yu L et. al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.

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7.

Sehayek E et. al. (2002) Loci on chromosomes 14 and 2, distinct from ABCG5/ABCG8, regulate plasma plant sterol levels in a C57BL/6J x CASA/Rk intercross.

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8.

None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.

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9.

Yang C et. al. (2004) Disruption of cholesterol homeostasis by plant sterols.

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10.

Rees DC et. al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.

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11.

Mannucci L et. al. (2007) Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

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12.

Rios J et. al. (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

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