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Int. J. Mol. Sci. 2015, 16(8), 19631-19644;

Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3

Bambino Gesù Children's Hospital-IRCCS, Gene Expression-Microarrays Laboratory, Viale di San Paolo 15, 00146 Rome, Italy
These authors contributed equally to this work.
Author to whom correspondence should be addressed.
Academic Editor: Christo Z. Christov
Received: 14 June 2015 / Revised: 23 July 2015 / Accepted: 7 August 2015 / Published: 19 August 2015
(This article belongs to the Collection Proteins and Protein-Ligand Interactions)
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In this review we reported and discussed the structural features of the ATP-Binding Cassette (ABC) transporter ABCA3 and how the use of bioinformatics tools could help researchers to obtain a reliable structural model of this important transporter. In fact, a model of ABCA3 is still lacking and no crystallographic structures (of the transporter or of its orthologues) are available. With the advent of next generation sequencing, many disease-causing mutations have been discovered and many more will be found in the future. In the last few years, ABCA3 mutations have been reported to have important pediatric implications. Thus, clinicians need a reliable structure to locate relevant mutations of this transporter and make genotype/phenotype correlations of patients affected by ABCA3-related diseases. In conclusion, we strongly believe that the model preliminarily generated by these novel bioinformatics tools could be the starting point to obtain more refined models of the ABCA3 transporter. View Full-Text
Keywords: ABC transporters; ABCA3; protein model ABC transporters; ABCA3; protein model

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Paolini, A.; Baldassarre, A.; Del Gaudio, I.; Masotti, A. Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3. Int. J. Mol. Sci. 2015, 16, 19631-19644.

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