Synonyms: ABC 10,ABC A4,ABC transporter,retinal-specific,ABC10,ABCA 4,abcA4,ABCA4,ABCR,ARMD 2,ARMD2,ATP binding cassette 10,ATP binding cassette sub family A member 4,ATP binding cassette sub family A member4,ATP binding cassette transporter,ATP binding cassette transporter retinal specific,ATP binding cassette,sub family A (ABC1),member 4,ATP binding cassette,sub family A (ABC1),member4,ATP binding cassette10,ATP binding transporter,retina specific,ATP-binding cassette sub-family A member 4,CORD 3,CORD3,DKFZp781N1972,FFM,FLJ17534,Photoreceptor rim protein,Retina specific ABC transporter,Retinal specific ATP binding cassette transporter,Retinal-specific ATP-binding cassette transporter,RIM ABC transporter,RIM protein,RmP,RP 19,RP19,Stargardt disease protein,STGD,STGD1
Background: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. 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 essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2.