ABCA4 (ATP-binding cassette, sub-family A (ABC1), member 4, Rim Protein) is a member of the superfamily of ATP-binding cassette (ABC) transporters (Illing et al., 1997). ABC proteins transport various molecules across extra- and intracellular membranes. 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 essential molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and age-related macular degeneration (Wiszniewski et al., 2003). Defects in ABCA4 are the cause of Stargardt disease type 1 (STGD1) (Molday et al., 2000). STGD is one of the most frequent causes of macular degeneration in childhood. Defects in ABCA4 are also known to cause fundus flavimaculatus (FFM), age-related macular degeneration type 2 (ARMD2) and cone-rod dystrophy type 3 (CORD3) (Klevering et al., 2005).
Volume: 100 µL
Concentration: Lot Specific
Form: Protein G purified culture supernatant
Host Species: Mouse
Antibody Isotype: IgG
Species Reactivity: Bovine, Human, Mouse, Xenopus
Applications: WB, IHC
Immunogen: Partially purified bovine 220-kDa disc rim protein
Gene ID: ABCA4
Antibody Registry ID (RRID): AB_2492034
Physical State: Liquid
Buffer: 100 µl in 10 mM HEPES (pH 7.5), 150 mM NaCl, 100 µg per ml BSA and 50% glycerol.
Validation and Application Notes
Molecular Weight: 220
Aves Labs products are intended for use as research laboratory reagents. They are not intended for use as diagnostic or therapeutic reagents in humans.