ABCA4 [ATP-binding cassette, sub-family A (ABC1), member 4, Rim Protein] is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essential molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and age-related macular degeneration. Defects in ABCA4 are the cause of Stargardt disease type 1 (STGD1). STGD is one of the most frequent causes of macular degeneration in childhood. Defects in ABCA4 are also known to cause fundus flavimaculatus (FFM), age-related macular degeneration type 2 (ARMD2) and cone-rod dystrophy type 3 (CORD3).
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Protein Aliases: ABCA4; ABCR; ATP binding cassette transporter; ATP-binding cassette 10; ATP-binding cassette sub-family A member 4; ATP-binding cassette transporter, retinal-specific; ATP-binding cassette, sub-family A (ABC1), member 4; ATP-binding transporter, retina-specific; photoreceptor rim protein; retina-specific ABC transporter; Retinal-specific ATP-binding cassette transporter; RIM ABC transporter; RIM protein; RmP; Stargardt disease protein
Gene Aliases: ABC10; ABCA4; ABCR; ARMD2; AW050280; CORD3; D430003I15Rik; FFM; RMP; RP19; STGD; STGD1