| ABC 10 antibody, ABC A4 antibody, ABC transporter retinal-specific antibody, ABC10 antibody, ABCA 4 antibody, abcA4 antibody, ABCA4_HUMAN antibody, ABCR antibody, ARMD 2 antibody, ARMD2 antibody, ATP binding cassette 10 antibody, ATP binding cassette sub family A member 4 antibody, ATP binding cassette sub family A member4 antibody, ATP binding cassette transporter antibody, ATP binding cassette transporter retinal specific antibody, ATP binding cassette, sub family A (ABC1) member 4 antibody, ATP binding cassette sub family A (ABC1) member4 antibody, ATP binding cassette10 antibody, ATP binding transporter retina specific antibody, ATP-binding cassette sub-family A member 4 antibody, CORD 3 antibody, CORD3 antibody, DKFZp781N1972 antibody, FFM antibody, FLJ17534 antibody, Photoreceptor rim protein antibody, Retina specific ABC transporter antibody, Retinal specific ATP binding cassette transporter antibody, Retinal-specific ATP-binding cassette transporter antibody, RIM ABC transporter antibody, RIM protein antibody, RmP antibody, RP 19 antibody, RP19 antibody, Stargardt disease protein antibody, STGD antibody, STGD1 antibody |
| 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). |
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