Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

ATP-binding cassette sub-family G member 5

ABCG5 gene is localized in a head-to-head position with the ABCG8 gene. Both use the same promotor and encode proteins with similar function, which is excretion of plant-derived cholesterol-like molecules, such as sitosterol into the bile duct and bowel. Mutations cause autosomal recessive sitosterolemia and mediterranean macrothrombocytopenia.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Sitosterolemia
ABCG5
ABCG8
Mediterranean macrothrombocytopenia
ABCG5
ABCG8

References:

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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Update: Sept. 26, 2018