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