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Antibody detects endogenous levels of total ABCA4.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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; RIM proteinv; Stargardt disease protein
基因别名: ABC10; ABCA4; ABCR; ARMD2; AW050280; CORD3; D430003I15Rik; FFM; RMP; RP19; STGD; STGD1
UniProt ID: (Human) P78363, (Mouse) O35600
Entrez Gene ID: (Human) 24, (Mouse) 11304