Abstract
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.
Highlights
adenosine triphosphate (ATP)-binding cassette transporters (ABC transporters) constitute one of the largest known superfamilies of proteins, that are well represented in all species, from prokaryotes to man
Examples of ABC A-subfamily disorders include Tangier’s (ABCA1), Alzheimer’s (ABCA2/ABCA7), Stargardt’s (ABCR/ABCA4), and Harlequin Ichthyosis (ABCA12) [5]. In this mini-review we focused our interest on ABCA3 transporter for its involvement in pediatric diseases such as neonatal surfactant deficiency [6] and to collect information on the structural features of this fundamental protein
We performed preliminary secondary structure comparative analyses on the ABCA3 protein and we found that NBD1 and NBD2 respectively have 35% and 38% similarity with the correspondent
Summary
ATP-binding cassette transporters (ABC transporters) constitute one of the largest known superfamilies of proteins, that are well represented in all species, from prokaryotes to man. These proteins are classified according to the sequence and organization of their ABC domain(s) [1]. Examples of ABC A-subfamily disorders include Tangier’s (ABCA1), Alzheimer’s (ABCA2/ABCA7), Stargardt’s (ABCR/ABCA4), and Harlequin Ichthyosis (ABCA12) [5] In this mini-review we focused our interest on ABCA3 transporter for its involvement in pediatric diseases such as neonatal surfactant deficiency [6] and to collect information on the structural features of this fundamental protein. A definite crystallographic structure would allow the assessment of the interaction of ABCA3 with ATP, substrates and/or other proteins, the presence of other intra-/inter-molecular connections, or to verify/exclude the presence of other genetic or environmental factors concurring to disease pathogenesis
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