Historical Background
Adenosine triphosphate (ATP)-binding cassette A3 transporter (ABCA3) is a member of the evolutionarily highly conserved family of ABC transporters. The ABCA3 gene (more than 80 kb length) maps to human chromosome 16 (16p13.3) and consists of 33 exons (30 of which are coding). ABCA3 encodes a 1704 amino acid (~150 kDa) protein (Dean 2005). ABCA3 is a lung-specific phospholipid transporter with a critical role in the intracellular surfactant synthesis and storage in lamellar bodies (LBs), which is organized into two tandem functional units (N-half and C-half), consisting in a TMD (α-helix motif) and a NBD for each half (Bruder et al. 2007; Park et al. 2010). The expression of ABCA3 is developmentally regulated, peaking prior to birth under the influence of steroids and transcription factors. Bi-allelic mutations of the ABCA3 gene represent...
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Paolini, A., Baldassarre, A., Masotti, A. (2018). ABCA3. In: Choi, S. (eds) Encyclopedia of Signaling Molecules. Springer, Cham. https://doi.org/10.1007/978-3-319-67199-4_101533
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DOI: https://doi.org/10.1007/978-3-319-67199-4_101533
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