Genomes and Genes
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
- 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)...
- 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 ..
- 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...
- 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 publisherABCA1, ABCA7, and ABCA4 are members of the ABCA subfamily of ATP-binding cassette transporters that share extensive sequence and structural similarity...
- 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 pubmedTo determine the frequency and nature of mutations in the gene ABCA4 in a cohort of patients with bull's-eye maculopathy (BEM).
- 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 publisherAutosomal recessive Stargardt disease (STGD1) is a macular dystrophy caused by mutations in the ABCA4 (ABCR) gene...
- 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. ..
- 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. ..