Phospholipid-transporting ATPase ABCA3 (ABCA3)

Phospholipid-transporting ATPase ABCA3 (ABCA3) is a member of the ATP-binding cassette (ABC) transporter superfamily, specifically the A subfamily, and is an integral membrane protein highly expressed in alveolar type II (AT2) cells of the lung[1]. ABCA3 localizes to the limiting membrane of lamellar bodies, where it transports phospholipids—primarily phosphatidylcholine and phosphatidylglycerol—into lamellar bodies for assembly and secretion of pulmonary surfactant, a lipid-protein complex essential for reducing alveolar surface tension and normal lung function[1][2][4]. Inherited biallelic mutations in ABCA3 disrupt this process, leading to deficient or dysfunctional lung surfactant and resulting in severe neonatal respiratory distress, interstitial lung disease, or fatal surfactant deficiency[2][4]. ABCA3 is also identified in other tissues, but its pathological significance is most pronounced in pulmonary disease. Research into small-molecule drugs that correct misfolded ABCA3 offers potential therapeutic avenues for certain genetic variants[3], but no established pharmacological modulators are currently used in clinical practice.

Other names

ATP binding cassette subfamily A member 3ATP-binding cassette transporter 3ABC3ABC-CABC-C transporterSMDP3150 Kda mature formEST111653LBM180Xenobiotic-transporting ATPase ABCA3ATP-binding cassette sub-family A member 3

Small-molecule correctors enhance correct folding and/or stability of some misfolded ABCA3 mutants, rescuing phospholipid transport function[3].