ABC10 antikoerper, ABCR antikoerper, ARMD2 antikoerper, CORD3 antikoerper, FFM antikoerper, RMP antikoerper, RP19 antikoerper, STGD antikoerper, STGD1 antikoerper, AW050280 antikoerper, Abc10 antikoerper, Abcr antikoerper, D430003I15Rik antikoerper, RmP antikoerper, abcr antikoerper, ffm antikoerper, rmp antikoerper, rp19 antikoerper, stgd antikoerper, abc10 antikoerper, armd2 antikoerper, cord3 antikoerper, stgd1 antikoerper, zgc:91823 antikoerper, ATP binding cassette subfamily A member 4 antikoerper, ATP-binding cassette, sub-family A (ABC1), member 4 antikoerper, ATP binding cassette subfamily A member 4 L homeolog antikoerper, ATP-binding cassette, sub-family A (ABC1), member 4a antikoerper, ABCA4 antikoerper, Abca4 antikoerper, abca4 antikoerper, abca4.L antikoerper, abca4a antikoerper
Hintergrund
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.