Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

ABCA1-Gen

Das ABCA1-Gen ist ein membranständiges Transportprotein, welches insbesondere für den Cholesterintransport zuständig ist. Mutationen zeigen eine codominante Vererbung. Während heterozygote Anlageträger deutlich erniedrigte HDL-Werte aufweisen und damit ein deutlich erhöhtes Coronarrisiko besitzen, erkranken homozygote oder compound heterozygote Anlageträger an einer Tangier-Erkrankung.

Diagnostik:

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

Krankheiten:

Hypoalphalipoproteinämie
ABCA1
APOA1
Tangier Erkrankung
ABCA1

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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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.

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13.

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

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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.

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15.

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

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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.

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17.

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

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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.

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19.

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

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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.

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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.

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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.

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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.

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24.

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

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25.

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

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26.

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

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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.

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28.

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

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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.

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30.

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

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31.

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

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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.

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33.

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

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34.

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

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35.

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

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36.

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

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37.

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

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38.

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

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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.

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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.

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41.

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

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42.

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

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43.

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

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44.

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

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45.

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

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46.

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

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47.

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

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48.

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

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49.

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

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50.

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

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51.

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

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52.

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

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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.

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54.

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

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55.

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

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