靶标：
ABCA4
产品别名：
ABC10； ABCR； ARMD2； CORD3； FFM； RMP； RP19； STGD； STGD1； ABCA4； ATP binding cassette subfamily A member 4； ATP binding cassette subfamily A member 4； retinal-specific phospholipid-transporting ATPase ABCA4； ATP binding cassette transporter； 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； RIM ABC transporter； RIM protein； RIM proteinv； photoreceptor rim protein； retina-specific ABC transporter； retinal-specific ATP-binding cassette transporter； stargardt disease protein； ATP结合盒转运蛋白A4(ABCA4)； 神经元突触膜胞外分泌调节蛋白1；
背景信息：
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
