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ABCA4 encodes a retinal-specific ABC transporter (ABCR, RmP) which presents retinals, especially all-trans-retinal, to all-trans-retinol dehydrogenase. ABCR is exclusively expressed in retinal rod photoreceptors, and is localized to the rim of rod outer segment discs. Studies using bovine cells (Sun et al. 1999) demonstrates retinal transport. Human ABCR was found to be identical to the ABC transporter linked to Stargardt?s disease type 1 (STGD1) [MIM:248200], a cause of macular degeneration in childhood (Nasonkin et al. 1998).
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