anticorps ABC10, anticorps ABCR, anticorps ARMD2, anticorps CORD3, anticorps FFM, anticorps RMP, anticorps RP19, anticorps STGD, anticorps STGD1, anticorps AW050280, anticorps Abc10, anticorps Abcr, anticorps D430003I15Rik, anticorps RmP, anticorps abcr, anticorps ffm, anticorps rmp, anticorps rp19, anticorps stgd, anticorps abc10, anticorps armd2, anticorps cord3, anticorps stgd1, anticorps zgc:91823, anticorps ATP binding cassette subfamily A member 4, anticorps ATP-binding cassette, sub-family A (ABC1), member 4, anticorps ATP binding cassette subfamily A member 4 L homeolog, anticorps ATP-binding cassette, sub-family A (ABC1), member 4a, anticorps ABCA4, anticorps Abca4, anticorps abca4, anticorps abca4.L, anticorps abca4a
Sujet
Synonyms:ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, 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.