ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene.[5][6][7]
Quick Facts Identifiers, Aliases ...
ABCA4 |
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Identifiers |
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Aliases | ABCA4, AW050280, Abc10, Abcr, D430003I15Rik, RmP, ARMD2, CORD3, FFM, RP19, STGD, STGD1, ATP binding cassette subfamily A member 4 |
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External IDs | OMIM: 601691; MGI: 109424; HomoloGene: 298; GeneCards: ABCA4; OMA:ABCA4 - orthologs |
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Wikidata |
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ABCA4 is a member of the ATP-binding cassette transporter gene sub-family A (ABC1) found exclusively in multicellular eukaryotes.[5] The gene was first cloned and characterized in 1997 as a gene that causes Stargardt disease, an autosomal recessive disease that causes macular degeneration.[8] The ABCA4 gene transcribes a large retina-specific protein with two transmembrane domains (TMD), two glycosylated extracellular domains (ECD), and two nucleotide-binding domains (NBD). The ABCA4 protein is almost exclusively expressed in retina localizing in outer segment disk edges of rod photoreceptors.[9]