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Beschreibung

Retinal-specific ATP-binding cassette transporter (UniProt: P78363, also known as ATP-binding cassette sub-family A member 4, RIM ABC transporter, RIM protein, RmP, Stargardt disease protein) is encoded by the ABCA4 (also known as ABCR) gene (Gene ID: 24) in human. ABC transporter A4 is a multi-pass membrane protein of the superfamily of ATP-binding cassette (ABC) transporters that is localized to the disk margins of vertebrate photoreceptor outer segments. It is implicated in the clearance of all-trans retinal derivatives from rod and cone photoreceptor cells following photoexcitation as part of the visual cycle. ABC transporter A4 is composed of two symmetrically organized halves, each comprising six membrane-spanning helices, a large glycosylated exocytoplasmic domain located inside the disk, and a cytoplasmic domain with an ATP-binding cassette. Mutations in ABCA4 gene are known to cause Stargardt macular degeneration, which is an autosomal recessive form of juvenile macular degeneration associated with a severe loss in vision. Mutations in ABCA4 gene are also known to cause retinitis pigmentosa, which is characterized by retinal pigment deposits and loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. (Ref.: Tsybovsky, Y., et al. (2010). Adv. Exp. Med. Biol. 703, 105-125).