ATP-binding cassette sub-family A member 3 (ABCA3)

ATP-binding cassette sub-family A member 3 (ABCA3) is a multi-membrane spanning lipid transporter essential for surfactant production in the lungs. ABCA3 specifically mediates the ATP-dependent import of major phospholipids into lamellar bodies within alveolar type II cells. These phospholipids are then processed with surfactant proteins to produce functional surfactant, which lowers alveolar surface tension and prevents lung collapse. Mutations in ABCA3 result in abnormal surfactant metabolism and underlie several hereditary and pediatric pulmonary diseases, most notably surfactant metabolism dysfunction type 3 and idiopathic pulmonary fibrosis. ABCA3 is structurally related to other ABC transporters including CFTR but possesses unique domains and is not currently targeted by approved drugs. Its function is indispensable for respiratory health, and genetic defects are associated with high mortality in neonates.

Other names

ABC transporter 3ABC3ABC-CABC-C transporterABCA3_HUMANATP-binding cassette transporter 3ATP-binding cassette, sub-family A (ABC1), member 3SMDP3

Potential mechanisms would include: Modulation of ABCA3 transporter function to restore lipid transport and surfactant metabolism. Correction of mutant protein trafficking or function (this is the approach in CFTR modulation and may theoretically apply for ABCA3). No compounds of this type are approved for ABCA3, so this is largely theoretical.