ATP-binding cassette sub-family A member 3 (ABCA3) plays an important role in the formation of pulmonary surfactant, probably by transporting phospholipids such as phosphatidylcholine (PC) and phosphatidylglycerol (PG) from the ER membrane to lamellar bodies (LBs). PC and PG are the major phospholipid constituents of pulmonary surfactant. LBs are the surfactant storage organelles of type II epithelial cells from where phospholipids can be secreted together with surfactant proteins (SFTPs) into the alveolar airspace (Klugbauer & Hofmann 1996, Yamano et al. 2001). Defects in ABCA3 are the cause of pulmonary surfactant metabolism dysfunction type 3 (SMDP3; MIM:610921) (Shulenin et al. 2004).
Klugbauer, N, Hofmann, F
Wert, SE, Annilo, T, Whitsett, JA, Nogee, LM, Shulenin, S, Dean, M
Morohoshi, T, Ban, N, Kawanami, O, Inagaki, N, Yamano, G, Shioda, S, Uchida, Y, Zhao, LX, Funahashi, H, Ogawa, J
lipid transporter activity of ABCA3 [lamellar body membrane]
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