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