The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, CFTR/MRP, ALD (adrenoleukodystrophy), OABP, GCN20, and White. This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipidhomeostasis in cells of the immune system. Alternative splicing of this gene results in two transcript variants.
The Icelandic database of Decode Genetics has shown a doubled probability of developing Alzheimer's disease when inactive variants of the ABCA7 gene are present.
Kaminski WE, Orsó E, Diederich W et al. (2000). "Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7).". Biochem. Biophys. Res. Commun.273 (2): 532–8. doi:10.1006/bbrc.2000.2954. PMID10873640.
Kaminski WE, Piehler A, Schmitz G (2001). "Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene". Biochem. Biophys. Res. Commun.278 (3): 782–9. doi:10.1006/bbrc.2000.3880. PMID11095984.
Tanaka AR, Ikeda Y, Abe-Dohmae S et al. (2001). "Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjögren's Syndrome". Biochem. Biophys. Res. Commun.283 (5): 1019–25. doi:10.1006/bbrc.2001.4891. PMID11355874.
Broccardo C, Osorio J, Luciani MF et al. (2001). "Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter". Cytogenet. Cell Genet.92 (3–4): 264–70. doi:10.1159/000056914. PMID11435699.
Iida A, Saito S, Sekine A et al. (2002). "Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8". J. Hum. Genet.47 (6): 285–310. doi:10.1007/s100380200041. PMID12111378.
Wang N, Lan D, Gerbod-Giannone M et al. (2003). "ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux". J. Biol. Chem.278 (44): 42906–12. doi:10.1074/jbc.M307831200. PMID12917409.
Kielar D, Kaminski WE, Liebisch G et al. (2003). "Adenosine triphosphate binding cassette (ABC) transporters are expressed and regulated during terminal keratinocyte differentiation: a potential role for ABCA7 in epidermal lipid reorganization". J. Invest. Dermatol.121 (3): 465–74. doi:10.1046/j.1523-1747.2003.12404.x. PMID12925201.
Abe-Dohmae S, Ikeda Y, Matsuo M et al. (2004). "Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein". J. Biol. Chem.279 (1): 604–11. doi:10.1074/jbc.M309888200. PMID14570867.
Ikeda Y, Abe-Dohmae S, Munehira Y et al. (2004). "Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release". Biochem. Biophys. Res. Commun.311 (2): 313–8. doi:10.1016/j.bbrc.2003.10.002. PMID14592415.
Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet.36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.