Merck, MABN2440, Anti-ABCA4 Antibody, clone 5B4

Retinal-specific ATP-binding cassette transporter (UniProt: P78363; also known as ATP-binding cassette sub-family A member 4, ABCA4, RIM ABC transporter, RIM protein, RmP, Stargardt disease protein) is encoded by the ABCA4 (also known as ABCR) gene (Gene ID: 24) in human. ABCA4 is a multi-pass membrane protein that is exclusively expressed in retina and is found in the rims of rod photoreceptor cells. It contains two ABC transporter domains (aa 929-1160 and 1938-2170). In the visual cycle, it act as a retinal extruder or retinal-phosphatidylethanolamine flippase to facilitate the removal of all-trans-retinal from disc membranes following the photobleaching of rhodopsin. Mutations in ABCA4 gene are reported to cause Stargardt disease, which is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. It has also been linked to age-related macular degeneration and retinitis pigmentosa.