Identification of a Novel Human Sterol-Sensitive ATP-Binding Cassette Transporter (ABCA7)

Kaminski, Wolfgang E.; Orsó, Evelyn; Diederich, Wendy; Klucken, Jochen; Drobnik, Wolfgang; Schmitz, Gerd

doi:10.1006/bbrc.2000.2954

Cited by 141 publications

(163 citation statements)

References 18 publications

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“…Expression of ABCA7 has been found in myelolymphatic tissues such as thymus, spleen, bone marrow, and fetal tissues [21]. Further analysis revealed that ABCA7 mRNA is expressed in lymphocytes, granulocytes, and monocytes, suggesting a role of ABCA7 in hematopoiesis.…”

Section: Abca7mentioning

confidence: 98%

“…In the year 2000, ABCA7, a new member of the A-subfamily, has been identified, and it extended the group of ABC transporters associated with lipid homeostasis. In pioneer cloning work [21], ABCA7 was characterized as a 2,146-amino acid protein sensitive to sterol concentrations. The expression levels of the protein were shown to change in different cholesterol import/export situations: in induced sterol uptake conditions, a notable increase in mRNA levels of this gene occurs, while cholesterol-depleting conditions results in down-regulation of its expression [21].…”

Section: Abca7mentioning

confidence: 99%

“…In pioneer cloning work [21], ABCA7 was characterized as a 2,146-amino acid protein sensitive to sterol concentrations. The expression levels of the protein were shown to change in different cholesterol import/export situations: in induced sterol uptake conditions, a notable increase in mRNA levels of this gene occurs, while cholesterol-depleting conditions results in down-regulation of its expression [21]. These studies propose that ABCA7 plays an important role in lipid trafficking at its distinct sites of expression.…”

Section: Abca7mentioning

confidence: 99%

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The ABCA subfamily—gene and protein structures, functions and associated hereditary diseases

Albrecht¹,

Viturro²

2006

Pflugers Arch - Eur J Physiol

103

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To date, 12 members of the human ABCA subfamily are identified. They share a high degree of sequence conservation and have been mostly related with lipid trafficking in a wide range of body locations. Mutations in some of these genes have been described to cause severe hereditary diseases related with lipid transport, such as fatal surfactant deficiency or harlequin ichthyosis. In addition, most of them are hypothesized to participate in the subcellular sequestration of drugs, thereby being responsible for the resistance of several carcinoma cell lines against drug treatment. The objective of this review is to summarize the literature for this subfamily of ABC transporter proteins, excluding ABCA1 and ABCA4, which will be discussed in other chapters of this issue.

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Section: Abca7mentioning

confidence: 98%

Section: Abca7mentioning

confidence: 99%

Section: Abca7mentioning

confidence: 99%

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The ABCA subfamily—gene and protein structures, functions and associated hereditary diseases

Albrecht¹,

Viturro²

2006

Pflugers Arch - Eur J Physiol

103

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“…Recent demographic studies have shown a decrease in incidences in developed countries most likely due to improved treatment and prevention of vascular risk factors 2, 3, 4. Genome‐wide association studies (GWAS) have revealed novel molecular pathways, among these the ATP‐binding‐cassette transporter A7 ( ABCA7 ),5, 6 which may be involved in both transmembrane lipid transport and phagocytosis of amyloid‐ β in the brain 7, 8, 9, 10, 11, 12, 13, 14. Following these GWAS findings, rare loss‐of‐function variants in ABCA7 were reported to confer risk of Alzheimer's disease in case–control studies in Icelandic and Belgian populations 15, 16.…”

Section: Introductionmentioning

confidence: 99%

“…ABCA7 is highly expressed in brain tissue,9, 21, 22 most abundant in microglia and oligodendrocytes 7, 23. Previous studies comparing ABCA7 knock‐out mice with wild‐type mice or J20 amyloidogenic mice demonstrate that ABCA7 is involved in clearance of amyloid‐ β in the brain through phagocytosis 12, 24.…”

Section: Introductionmentioning

confidence: 99%

ABCA7 and risk of dementia and vascular disease in the Danish population

Kjeldsen

Tybjærg‐Hansen

Nordestgaard

et al. 2017

Ann Clin Transl Neurol

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Objective ATP‐binding‐cassette transporter A7(ABCA7) is suggested to be involved in lipid transport as well as in phagocytosis of amyloid‐β in the brain. We tested the hypothesis that a common genetic variant in ABCA7 is associated with dementia, ischemic heart disease, ischemic cerebrovascular disease, and with lipid levels in the general population, independent of the common apolipoprotein E(APOE) genotype.MethodsFor this purpose, we genotyped a common genetic variant in ABCA7, identified in genome‐wide‐association‐studies of Alzheimer's disease, in 104,258 individuals from the Danish general population, and also meta‐analyzed our results with publicly available consortia data.ResultsMultifactorially adjusted hazard ratios for Alzheimer's disease were 1.07 (95% confidence interval:0.93–1.23) and 1.72 (1.24–2.40) for GA and AA versus GG genotype. Results were similar after APOE genotype adjustment and when only APOE ɛ33 carriers were studied. Including 178,304 individuals, the meta‐analyzed odds ratio for Alzheimer's disease per one allele ABCA7 rs4147929 increase was 1.15 (1.12–1.18). ABCA7 genotype was not convincingly associated with vascular dementia, ischemic heart disease, ischemic cerebrovascular disease, or with lipid levels. Including 288,563 individuals, meta‐analyzed odds ratios for ischemic heart disease per one allele ABCA7 rs4147929 increase was 1.01 (0.99–1.03).InterpretationA common genetic variant in ABCA7 was associated with high risk of Alzheimer's disease independent of APOE genotype. The lack of association with vascular dementia, ischemic heart disease, ischemic cerebrovascular disease, and with lipid levels suggests that ABCA7 is not important for atherosclerosis. Thus, our findings support the suggested role of ABCA7 in Alzheimer's disease pathology and phagocytic clearance of amyloid‐β in the brain.

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HumanABCTransporters: Function, Expression, and Regulation

Schmitz

Langmann

2008

Protein Science Encyclopedia

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Originally published in: Cellular Proteins and Their Fatty Acids in Health and Disease. Edited by Asim K. Duttaroy and Friedrich Spener. Copyright © 2003 Wiley‐VCH Verlag GmbH & Co. KGaA Weinheim. Print ISBN: 3‐527‐30437‐0 The sections in this article are Introduction Structural Features of ATP Binding Cassette ( ABC ) Transporters Overview of Human ABC Gene Subfamilies The ABCA ( ABC 1) Subfamily The ABCB ( MDR / TAP ) Subfamily The ABCC ( CFTR / MRP ) Subfamily The ABCD ( ALD ) Subfamily The ABCE ( OABP ) and ABCF ( GCN 20) Subfamilies The ABCG (White) Subfamily Diseases and Phenotypes Caused by ABCM Transporters Familial HDL‐deficiency and ABCA 1 Retinal Degeneration and ABCA 4 ( ABCR ) Cystic Fibrosis ( ABCC 7/ CFTR ) Multidrug Resistance ( ABCB 1/ MDR 1, ABCC 1/ MRP 1, ABCG 2) Adrenoleukodystrophy ( ABCD 1/ ALD ) Sulfonylurea Receptor ( ABCC 8/ SUR ) Function and Regulation of ABC Transporters in Lipid Transport ABCA 1 in Macrophage Lipid Transport ABCG 1 and Other ABCG Members in Sterol Homeostasis ABC Transporters involved in Hepatobiliary Transport Conclusions

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Identification of a Novel Human Sterol-Sensitive ATP-Binding Cassette Transporter (ABCA7)

Cited by 141 publications

References 18 publications

The ABCA subfamily—gene and protein structures, functions and associated hereditary diseases

The ABCA subfamily—gene and protein structures, functions and associated hereditary diseases

ABCA7 and risk of dementia and vascular disease in the Danish population

HumanABCTransporters: Function, Expression, and Regulation

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