ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3gene.[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. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.[6]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Klugbauer N, Hofmann F (Sep 1996). "Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein". FEBS Lett. 391 (1–2): 61–5. doi:10.1016/0014-5793(96)00700-4. PMID8706931.
Connors TD, Van Raay TJ, Petry LR, et al. (1997). "The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3". Genomics. 39 (2): 231–4. doi:10.1006/geno.1996.4500. PMID9027511.
Yamano G, Funahashi H, Kawanami O, et al. (2001). "ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells". FEBS Lett. 508 (2): 221–5. doi:10.1016/S0014-5793(01)03056-3. PMID11718719.
Shulenin S, Nogee LM, Annilo T, et al. (2004). "ABCA3 gene mutations in newborns with fatal surfactant deficiency". N. Engl. J. Med. 350 (13): 1296–303. doi:10.1056/NEJMoa032178. PMID15044640.
Nagata K, Yamamoto A, Ban N, et al. (2004). "Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles". Biochem. Biophys. Res. Commun. 324 (1): 262–8. doi:10.1016/j.bbrc.2004.09.043. PMID15465012.
Wulf GG, Modlich S, Inagaki N, et al. (2006). "ABC transporter ABCA3 is expressed in acute myeloid leukemia blast cells and participates in vesicular transport". Haematologica. 89 (11): 1395–7. PMID15531465.
Saugstad OD, Hansen TW, Rønnestad A, et al. (2007). "Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease". Acta Paediatr. 96 (2): 185–90. doi:10.1111/j.1651-2227.2007.00016.x. PMID17429902.
Matsumura Y, Sakai H, Sasaki M, et al. (2007). "ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells". FEBS Lett. 581 (17): 3139–44. doi:10.1016/j.febslet.2007.05.078. PMID17574245.