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ATP-binding cassette sub-family A member 2 is a protein that in humans is encoded by the ABCA2gene.[5][6]
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.[6]
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.
Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants". Mol. Vis. 8: 171–84. PMID12107413.
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.
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.
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. S2CID36309768.
This page was last edited on 26 January 2024, at 14:21