Immunogen sequence: QELLMNAPES QHLGRIWTEL HILSQFMDTL RTHPERIAGR GIRIRDILKD EETLTLFLIK NIGLSDSVVY LLINSQVRPE QFAHGVPDLA LKDIACSEAL LERFIIFSQR RGAKTVRYAL CSLSQGTLQW IEDTLYANVD FFKLFRVLPT LLDSRSQGIN LRSWGGILSD MSPRIQEFIH RPSMQDLLWV T; Positive Samples: U-251MG, BT-474, 293T, Mouse heart, Mouse lung, Rat eye; Cellular Location: Membrane, Multi-pass membrane protein
ABCA4 (ATP-Binding Cassette, Subfamily A, Member 4), also known as ABCR, is a protein which in humans is encoded by the ABCA4 gene. ABCA4 is a member of the ATP-binding cassette transporter gene sub-family A (ABC1) found exclusively in multicellular eukaryotes. Using a whole genome radiation hybrid panel, this gene is mapped to 1p21-p13. And this gene is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Additionally, it is showed by immunofluorescence microscopy and Western blot analysis that ABCR is present in foveal and peripheral cone, as well as rod, photoreceptors. The results suggested that the loss in central vision experienced by patients with Stargardt macular dystrophy arises directly from ABCR-mediated foveal cone degeneration.
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Protein Aliases: ATP binding cassette transporter; ATP-binding cassette 10; 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; photoreceptor rim protein; retina-specific ABC transporter; Retinal-specific ATP-binding cassette transporter; Retinal-specific phospholipid-transporting ATPase ABCA4; RIM ABC transporter; RIM protein; Stargardt disease protein
Gene Aliases: ABC10; ABCA4; ABCR; ARMD2; AW050280; CORD3; D430003I15Rik; FFM; RMP; RP19; STGD; STGD1