ABCA2 Background Information The ATP binding cassette (ABC) transporters, or traffic ATPases, constitute an expansive family of proteins accountable for the transport of a wide variety of substrates across cell membranes in both prokaryotic and eukaryotic cells. They also aid in the regulation of lipid transport and membrane trafficking. The gene encoding ABCA2 (ATP-binding cassette 2), also designated ATP-binding cassette transporter 2, ABC transporter 2 and KIAA1062) is composed of 48 exons located within a genomic region of only 21 kb. Analysis of the presumed ABCA2 promoter sequence reveals possible binding sites for transcription factors that participate in the differentiation of myeloid and neural cells. Gene expression analysis in human macrophages shows that ABCA2 mRNA is procured during cholesterol import, indicating that ABCA2 is a cholesterol-responsive gene. Research suggests that ABCA2 plays a putative role in macrophage lipid metabolism and neural development.
