ABCA4 Antibody

ABCA4 (ATP-Binding Cassette, Subfamily A, Member 4), also known as ABCR, is a protein which in humans is encoded by the ABCA4 gene. ABCA4 is a member of the ATP-binding cassette transporter gene sub-family A (ABC1) found exclusively in multicellular eukaryotes. Using a whole genome radiation hybrid panel, this gene is mapped to 1p21-p13. And this gene is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Additionally, it is showed by immunofluorescence microscopy and Western blot analysis that ABCR is present in foveal and peripheral cone, as well as rod, photoreceptors. The results suggested that the loss in central vision experienced by patients with Stargardt macular dystrophy arises directly from ABCR-mediated foveal cone degeneration.