DATASHEET
Host:
Mouse
Target Protein:
ABCA4 (Rim Protein)
Specificity:
Specific for endogenous levels of ABCA4.
Clonality:
Monoclonal
Isotype:
IgG1
Entrez Gene:
11304
Swiss Prot:
O35600
Source:
Partially purified bovine 220-kDa disc rim protein
Purification:
Purified by Protein G.
Storage Buffer:
10 mM HEPES (pH 7.5), 150 mM NaCl, 100 µg per ml BSA and 50% glycerol.
Storage:
Storage at -20°C is recommended, as aliquots may be taken without freeze/thawing due to presence of 50% glycerol. Stable for at least 1 year at -20°C.
Background:
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).