ABC10 antibody, ABCR antibody, ARMD2 antibody, CORD3 antibody, FFM antibody, RMP antibody, RP19 antibody, STGD antibody, STGD1 antibody, AW050280 antibody, Abc10 antibody, Abcr antibody, D430003I15Rik antibody, RmP antibody, abcr antibody, ffm antibody, rmp antibody, rp19 antibody, stgd antibody, abc10 antibody, armd2 antibody, cord3 antibody, stgd1 antibody, zgc:91823 antibody, ATP binding cassette subfamily A member 4 antibody, ATP-binding cassette, sub-family A (ABC1), member 4 antibody, ATP binding cassette subfamily A member 4 L homeolog antibody, ATP-binding cassette, sub-family A (ABC1), member 4a antibody, ABCA4 antibody, Abca4 antibody, abca4 antibody, abca4.L antibody, abca4a antibody
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). Anti-ABCA4 Immunohistochemical staining of adult mouse retina showing specific immunolabeling of the ABCA4 protein. Photo courtesy of Mary Raven, University of California, Santa Barbara, CA.