Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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ATP-binding cassette sub-family G member 1

The ABCG1 gene encodes an ATP dependend membrane transport protein involved in cholesterol and phospholipid transport. Epigenetic modification of this gene was associated with dyslipidemia.

Genetests:

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

Related Diseases:

Epigenetic dyslipidemia
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1

References:

1.

Braun KV et al. (2016) The role of DNA methylation in dyslipidaemia: A systematic review.

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2.

Pfeiffer L et al. (2015) DNA methylation of lipid-related genes affects blood lipid levels.

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3.

Guay SP et al. (2014) Epipolymorphisms within lipoprotein genes contribute independently to plasma lipid levels in familial hypercholesterolemia.

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4.

Yvan-Charvet L et al. (2010) ATP-binding cassette transporters and HDL suppress hematopoietic stem cell proliferation.

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5.

Chen H et al. (1996) Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3.

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6.

Savary S et al. (1996) Molecular cloning of a mammalian ABC transporter homologous to Drosophila white gene.

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7.

Croop JM et al. (1997) Isolation and characterization of a mammalian homolog of the Drosophila white gene.

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8.

Klucken J et al. (2000) ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport.

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9.

Langmann T et al. (2000) Genomic organization and characterization of the promoter of the human ATP-binding cassette transporter-G1 (ABCG1) gene.

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10.

Lorkowski S et al. (2001) Genomic sequence and structure of the human ABCG1 (ABC8) gene.

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11.

Jakobsson T et al. (2009) GPS2 is required for cholesterol efflux by triggering histone demethylation, LXR recruitment, and coregulator assembly at the ABCG1 locus.

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12.

Peng P et al. (2014) A preliminary study of the relationship between promoter methylation of the ABCG1, GALNT2 and HMGCR genes and coronary heart disease.

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13.

NCBI article

NCBI 9619 external link
14.

OMIM.ORG article

Omim 603076 external link
15.

Wikipedia article

Wikipedia EN (ABCG1) external link
Update: Aug. 14, 2020
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