Gene Symbol: Abca4
Description: ATP binding cassette subfamily A member 4
Alias: ABCR, retinal-specific ATP-binding cassette transporter, ATP-binding cassette, sub-family A (ABC1), member 4, ATP-binding cassette, subfamily A (ABC1), member 4
Species: rat
Products:     Abca4

Top Publications

  1. Maeda A, Golczak M, Maeda T, Palczewski K. Limited roles of Rdh8, Rdh12, and Abca4 in all-trans-retinal clearance in mouse retina. Invest Ophthalmol Vis Sci. 2009;50:5435-43 pubmed publisher
    ..The protective roles were examined of the all-trans-RDHs, Rdh8 and Rdh12, and the ATP-binding cassette transporter Abca4, retinoid cycle enzymes involved in all-trans-retinal clearance.
  2. Chouchene I, Largueche L, Ouechtati F, Derouiche K, Turki A, Abdelhak S, et al. [Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients]. Ann Biol Clin (Paris). 2013;71:645-51 pubmed publisher
    In order to charaterize the Stargardt disease, the molecular exploration of the c.2041C>T mutation (ABCA4 gene) and genotype phenotype correlation in Tunisian patients, seven unrelated propositi underwent a complete ophthalmological ..
  3. Zhang Y, Seo S, Bhattarai S, Bugge K, Searby C, Zhang Q, et al. BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet. 2014;23:40-51 pubmed publisher
    ..Our data indicate that genetic interactions between BBSome components and CEP290 could underlie the variable expression and overlapping phenotypes of ciliopathies caused by CEP290 mutations. ..
  4. Burke T, Fishman G, Zernant J, Schubert C, Tsang S, Smith R, et al. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2012;53:4458-67 pubmed publisher
    We evaluated the pathogenicity of the G1961E mutation in the ABCA4 gene, and present the range of retinal phenotypes associated with this mutation in homozygosity in a patient cohort with ABCA4-associated phenotypes.
  5. Roberts L, Nossek C, Greenberg L, Ramesar R. Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients. Mol Vis. 2012;18:280-9 pubmed
    Based on the previous indications of founder ATP-binding cassette sub-family A member 4 gene (ABCA4) mutations in a South African subpopulation, the purpose was to devise a mechanism for identifying common disease-causing mutations in ..
  6. Singh H, Jalali S, Hejtmancik J, Kannabiran C. Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy. Am J Ophthalmol. 2006;141:906-13 pubmed
    ..To identify the genes causing autosomal recessive retinal dystrophy in Indian families and to characterize the associated phenotypes...
  7. Kiser P, Golczak M, Maeda A, Palczewski K. Key enzymes of the retinoid (visual) cycle in vertebrate retina. Biochim Biophys Acta. 2012;1821:137-51 pubmed publisher
    ..This article is part of a Special Issue entitled: Retinoid and Lipid Metabolism. ..
  8. Mata N, Tzekov R, Liu X, Weng J, Birch D, Travis G. Delayed dark-adaptation and lipofuscin accumulation in abcr+/- mice: implications for involvement of ABCR in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2001;42:1685-90 pubmed
    To examine the ocular phenotype in mice heterozygous for a null mutation in the abcr gene.
  9. Weng J, Mata N, Azarian S, Tzekov R, Birch D, Travis G. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell. 1999;98:13-23 pubmed
    Rim protein (RmP) is an ABC transporter of unknown function in rod outer segment discs. The human gene for RmP (ABCR) is affected in several recessive retinal degenerations. Here, we characterize the ocular phenotype in abcr knockout mice...

More Information


  1. Cremers F, van de Pol D, van Driel M, den Hollander A, van Haren F, Knoers N, et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet. 1998;7:355-62 pubmed
    ..22), a genomic segment known to harbor the ABCR gene involved in Stargardt's disease (STGD) and age-related macular degeneration (AMD)...
  2. Allikmets R, Shroyer N, Singh N, Seddon J, Lewis R, Bernstein P, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997;277:1805-7 pubmed
    ..Here, 167 unrelated AMD patients were screened for alterations in ABCR, a gene that encodes a retinal rod photoreceptor protein and is defective in Stargardt disease, a common hereditary ..
  3. Bhongsatiern J, Ohtsuki S, Tachikawa M, Hori S, Terasaki T. Retinal-specific ATP-binding cassette transporter (ABCR/ABCA4) is expressed at the choroid plexus in rat brain. J Neurochem. 2005;92:1277-80 pubmed
    ..In contrast, a previous report has suggested a possible relationship between ABCA4 and CNS function...
  4. Quazi F, Molday R. Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. J Biol Chem. 2013;288:34414-26 pubmed publisher
    ABCA1, ABCA7, and ABCA4 are members of the ABCA subfamily of ATP-binding cassette transporters that share extensive sequence and structural similarity...
  5. Michaelides M, Chen L, Brantley M, Andorf J, Isaak E, Jenkins S, et al. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. Br J Ophthalmol. 2007;91:1650-5 pubmed
    To determine the frequency and nature of mutations in the gene ABCA4 in a cohort of patients with bull's-eye maculopathy (BEM).
  6. Kong J, Kim S, Binley K, Pata I, Doi K, Mannik J, et al. Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy. Gene Ther. 2008;15:1311-20 pubmed publisher
    Autosomal recessive Stargardt disease (STGD1) is a macular dystrophy caused by mutations in the ABCA4 (ABCR) gene...
  7. Wright A, Chakarova C, Abd El Aziz M, Bhattacharya S. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet. 2010;11:273-84 pubmed publisher
    ..Although genetic and mechanistic diversity creates challenges for therapy, some approaches--particularly gene-replacement therapy--are showing considerable promise. ..
  8. Daiger S, Sullivan L, Bowne S. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84:132-41 pubmed publisher
    ..In this review, we summarize the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems. Similar considerations apply to other forms of inherited retinal disease. ..