ATP-binding cassette sub-family A member 2 is a protein that in humans is encoded by the ABCA2gene.[1][2]
The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, 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 protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene.[2]
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Allikmets R, Gerrard B, Glavac D, et al. (1995). "Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database". Mamm. Genome. 6 (2): 114–7. doi:10.1007/BF00303254. PMID7766993.
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Kaminski WE, Piehler A, Püllmann K, et al. (2001). "Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages". Biochem. Biophys. Res. Commun. 281 (1): 249–58. doi:10.1006/bbrc.2001.4305. PMID11178988.
Vulevic B, Chen Z, Boyd JT, et al. (2001). "Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2 (ABCA2)". Cancer Res. 61 (8): 3339–47. PMID11309290.
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Ile KE, Davis W, Boyd JT, et al. (2005). "Identification of a novel first exon of the human ABCA2 transporter gene encoding a unique N-terminus". Biochim. Biophys. Acta. 1678 (1): 22–32. doi:10.1016/j.bbaexp.2004.01.007. PMID15093135.
Chen ZJ, Vulevic B, Ile KE, et al. (2005). "Association of ABCA2 expression with determinants of Alzheimer's disease". FASEB J. 18 (10): 1129–31. doi:10.1096/fj.03-1490fje. PMID15155565.
Davis W, Boyd JT, Ile KE, Tew KD (2004). "Human ATP-binding cassette transporter-2 (ABCA2) positively regulates low-density lipoprotein receptor expression and negatively regulates cholesterol esterification in Chinese hamster ovary cells". Biochim. Biophys. Acta. 1683 (1–3): 89–100. doi:10.1016/j.bbalip.2004.04.009. PMID15238223.
Homma K, Kikuno RF, Nagase T, et al. (2004). "Alternative splice variants encoding unstable protein domains exist in the human brain". J. Mol. Biol. 343 (5): 1207–20. doi:10.1016/j.jmb.2004.09.028. PMID15491607.
Macé S, Cousin E, Ricard S, et al. (2005). "ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease". Neurobiol. Dis. 18 (1): 119–25. doi:10.1016/j.nbd.2004.09.011. PMID15649702.
Wang Y, Yamada K, Tanaka Y, et al. (2005). "Expression of ABCA2 protein in human vestibular schwannoma and peripheral nerve". J. Neurol. Sci. 232 (1–2): 59–63. doi:10.1016/j.jns.2005.01.016. PMID15850583.
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