This mouse monoclonal antibody recognizes ATP-binding cassette, sub-family A (ABC1), member 4, Rim Protein (ABCA4 ) in bovine, human, mouse, and Xenopus ABCA4 (Rim Protein).

Antibody Specifications

Applications:

 Western blot, Immunohistochemistry

Species Cross-Reactivity:

 Bovine, Human, Mouse, and Xenopus

Clone ID:

3F4

Host Species and Isotype:

 Mouse IgG

Specific for ABCA4
ABCA4 [ATP-binding cassette, sub-family A (ABC1), member 4, Rim Protein] is a member of the superfamily of ATP-binding cassette (ABC) transporters (Ref 1). 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 (Ref 4). Defects in ABCA4 are the cause of Stargardt disease type 1 (STGD1) (Ref 3). 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) (Ref 2).

For research use only. Not intended for any animal or human therapeutic or diagnostic use.

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References:

  1. Illing M, Molday LL, Molday RS. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J Biol Chem. 1997 Apr 11;272(15):10303-10. PubMed PMID: 9092582.
  2. Klevering BJ, Deutman AF, Maugeri A, Cremers FP, Hoyng CB. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefes Arch Clin Exp Ophthalmol. 2005 Feb;243(2):90-100. Epub 2004 Dec 22. PubMed PMID: 15614537
  3. Molday LL, Rabin AR, Molday RS. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nat Genet. 2000 Jul;25(3):257-8. PubMed PMID: 10888868
  4. Wiszniewski W, Zaremba CM, Yatsenko AN, Jamrich M, Wensel TG, Lewis RA, Lupski JR. ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Hum Mol Genet. 2005 Oct 1;14(19):2769-78. Epub 2005 Aug 15. PubMed PMID: 16103129.