Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

ABCA1 Gene

ABCA1 Gene encodes a membrane-associated protein responsible for cholesterol transport as a cholesterol efflux pump in the cellular lipid removal pathway. Mutations in this gene show codominant inheritance. While heterozygous carriers show low HDL levels and an increased risk of coronary heard disease, homozygous and compound heterozygous carriers suffer from Tangier disease

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic 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:

Hypoalphalipoproteinemia
ABCA1
APOA1
Tangier Disease
ABCA1

References:

1.

Repa JJ et al. (2000) Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers.

[^]
2.

Lu TT et. al. (2000) Molecular basis for feedback regulation of bile acid synthesis by nuclear receptors.

[^]
3.

Teslovich TM et. al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids.

[^]
4.

Kathiresan S et. al. (2008) Polymorphisms associated with cholesterol and risk of cardiovascular events.

[^]
5.

Najafi-Shoushtari SH et. al. (2010) MicroRNA-33 and the SREBP host genes cooperate to control cholesterol homeostasis.

[^]
6.

Langmann T et al. (1999) Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages.

[^]
7.

Young SG et al. (1999) The ABCs of cholesterol efflux.

[^]
8.

Brooks-Wilson A et al. (1999) Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

[^]
9.

Bodzioch M et al. (1999) The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.

[^]
10.

Rust S et al. (1999) Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.

[^]
11.

Lawn RM et al. (1999) The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway.

[^]
12.

Remaley AT et al. (1999) Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred.

[^]
13.

Orsó E et al. (2000) Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice.

[^]
14.

McNeish J et al. (2000) High density lipoprotein deficiency and foam cell accumulation in mice with targeted disruption of ATP-binding cassette transporter-1.

[^]
15.

Pullinger CR et al. (2000) Analysis of hABC1 gene 5' end: additional peptide sequence, promoter region, and four polymorphisms.

[^]
16.

Santamarina-Fojo S et al. (2000) Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter.

[^]
17.

Zhao LX et al. (2000) Cloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2.

[^]
18.

Utech M et al. (2001) Accumulation of RhoA, RhoB, RhoG, and Rac1 in fibroblasts from Tangier disease subjects suggests a regulatory role of Rho family proteins in cholesterol efflux.

[^]
19.

Tanaka AR et al. (2001) Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjögren's Syndrome.

[^]
20.

Singaraja RR et al. (2001) Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1.

[^]
21.

Lapicka-Bodzioch K et al. (2001) Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome.

[^]
22.

Huang W et al. (2001) Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.

[^]
23.

Szakács G et al. (2001) Characterization of the ATPase cycle of human ABCA1: implications for its function as a regulator rather than an active transporter.

[^]
24.

Wellington CL et al. (2002) ABCA1 mRNA and protein distribution patterns predict multiple different roles and levels of regulation.

[^]
25.

Zwarts KY et al. (2002) ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels.

[^]
26.

Ho Hong S et al. (2002) Novel ABCA1 compound variant associated with HDL cholesterol deficiency.

[^]
27.

Fitzgerald ML et al. (2002) Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I.

[^]
28.

Ishii J et al. (2002) Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis.

[^]
29.

Guo Z et al. (2002) Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease.

[^]
30.

Tanaka AR et al. (2003) Effects of mutations of ABCA1 in the first extracellular domain on subcellular trafficking and ATP binding/hydrolysis.

[^]
31.

Wang N et al. (2003) A PEST sequence in ABCA1 regulates degradation by calpain protease and stabilization of ABCA1 by apoA-I.

[^]
32.

Cenarro A et al. (2003) A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia.

[^]
33.

Kolovou GD et al. (2003) Tangier disease with unusual clinical manifestations.

[^]
34.

Neufeld EB et al. (2004) The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease.

[^]
35.

Nofer JR et al. (2004) Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease).

[^]
36.

Wahrle SE et al. (2004) ABCA1 is required for normal central nervous system ApoE levels and for lipidation of astrocyte-secreted apoE.

[^]
37.

Hirsch-Reinshagen V et al. (2004) Deficiency of ABCA1 impairs apolipoprotein E metabolism in brain.

[^]
38.

Cohen JC et al. (2004) Multiple rare alleles contribute to low plasma levels of HDL cholesterol.

[^]
39.

Kulozik AE et al. (1992) A deletion/inversion rearrangement of the beta-globin gene cluster in a Turkish family with delta beta zero-thalassemia intermedia.

[^]
40.

Albrecht C et al. (2005) A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome.

[^]
41.

Katzov H et al. (2006) Quantitative trait loci in ABCA1 modify cerebrospinal fluid amyloid-beta 1-42 and plasma apolipoprotein levels.

[^]
42.

Brunham LR et al. (2006) Intestinal ABCA1 directly contributes to HDL biogenesis in vivo.

[^]
43.

Brunham LR et al. (2007) Beta-cell ABCA1 influences insulin secretion, glucose homeostasis and response to thiazolidinedione treatment.

[^]
44.

Rayner KJ et al. (2010) MiR-33 contributes to the regulation of cholesterol homeostasis.

[^]
45.

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

[^]
46.

Brunham LR et al. (2011) Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans.

[^]
47.

Rayner KJ et. al. (2011) Inhibition of miR-33a/b in non-human primates raises plasma HDL and lowers VLDL triglycerides.

[^]
48.

Goossens M et al. (1986) Isolated growth hormone (GH) deficiency type 1A associated with a double deletion in the human GH gene cluster.

[^]
49.

Jennings MW et al. (1985) Analysis of an inversion within the human beta globin gene cluster.

[^]
50.

Marcil M et al. (1995) Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization.

[^]
51.

Luciani MF et al. (1994) Cloning of two novel ABC transporters mapping on human chromosome 9.

[^]
52.

Hoop RC et al. (1994) Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family.

[^]
53.

Becq F et al. (1997) ABC1, an ATP binding cassette transporter required for phagocytosis of apoptotic cells, generates a regulated anion flux after expression in Xenopus laevis oocytes.

[^]
54.

Decottignies A et al. (1997) Complete inventory of the yeast ABC proteins.

[^]
55.

Marcil M et al. (1999) Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency.

[^]
Update: Sept. 26, 2018