- ABCA4
ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4, is a human
gene .cite web | title = Entrez Gene: ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=24| accessdate = ]PBB_Summary
section_title =
summary_text = The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. 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 essental 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 macular degeneration age-related 2.cite web | title = Entrez Gene: ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=24| accessdate = ]ee also
*
ATP-binding cassette transporter References
Further reading
PBB_Further_reading
citations =
*cite journal | author=MacDonald IM |title=Genetic aspects of age-related macular degeneration. |journal=Can. J. Ophthalmol. |volume=40 |issue= 3 |pages= 288–92 |year= 2006 |pmid= 15947798 |doi= 10.1139/i05-002
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Allikmets R, Singh N, Sun H, "et al." |title=A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. |journal=Nat. Genet. |volume=15 |issue= 3 |pages= 236–46 |year= 1997 |pmid= 9054934 |doi= 10.1038/ng0397-236
*cite journal | author=Martínez-Mir A, Bayés M, Vilageliu L, "et al." |title=A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. |journal=Genomics |volume=40 |issue= 1 |pages= 142–6 |year= 1997 |pmid= 9070931 |doi=
*cite journal | author=Azarian SM, Travis GH |title=The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). |journal=FEBS Lett. |volume=409 |issue= 2 |pages= 247–52 |year= 1997 |pmid= 9202155 |doi=
*cite journal | author=Sun H, Nathans J |title=Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. |journal=Nat. Genet. |volume=17 |issue= 1 |pages= 15–6 |year= 1997 |pmid= 9288089 |doi= 10.1038/ng0997-15
*cite journal | author=Allikmets R |title=A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. |journal=Nat. Genet. |volume=17 |issue= 1 |pages= 122 |year= 1997 |pmid= 9288113 |doi= 10.1038/ng0997-122a
*cite journal | author=Allikmets R, Shroyer NF, Singh N, "et al." |title=Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. |journal=Science |volume=277 |issue= 5333 |pages= 1805–7 |year= 1997 |pmid= 9295268 |doi=
*cite journal | author=Martínez-Mir A, Paloma E, Allikmets R, "et al." |title=Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. |journal=Nat. Genet. |volume=18 |issue= 1 |pages= 11–2 |year= 1998 |pmid= 9425888 |doi= 10.1038/ng0198-11
*cite journal | author=Cremers FP, van de Pol DJ, van Driel M, "et al." |title=Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. |journal=Hum. Mol. Genet. |volume=7 |issue= 3 |pages= 355–62 |year= 1998 |pmid= 9466990 |doi=
*cite journal | author=Nasonkin I, Illing M, Koehler MR, "et al." |title=Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. |journal=Hum. Genet. |volume=102 |issue= 1 |pages= 21–6 |year= 1998 |pmid= 9490294 |doi=
*cite journal | author=Gerber S, Rozet JM, van de Pol TJ, "et al." |title=Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. |journal=Genomics |volume=48 |issue= 1 |pages= 139–42 |year= 1998 |pmid= 9503029 |doi= 10.1006/geno.1997.5164
*cite journal | author=Azarian SM, Megarity CF, Weng J, "et al." |title=The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis. |journal=Hum. Genet. |volume=102 |issue= 6 |pages= 699–705 |year= 1998 |pmid= 9703434 |doi=
*cite journal | author=Rozet JM, Gerber S, Souied E, "et al." |title=Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. |journal=Eur. J. Hum. Genet. |volume=6 |issue= 3 |pages= 291–5 |year= 1998 |pmid= 9781034 |doi= 10.1038/sj.ejhg/5200221
*cite journal | author=Lewis RA, Shroyer NF, Singh N, "et al." |title=Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. |journal=Am. J. Hum. Genet. |volume=64 |issue= 2 |pages= 422–34 |year= 1999 |pmid= 9973280 |doi=
*cite journal | author=Sun H, Molday RS, Nathans J |title=Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. |journal=J. Biol. Chem. |volume=274 |issue= 12 |pages= 8269–81 |year= 1999 |pmid= 10075733 |doi=
*cite journal | author=Maugeri A, van Driel MA, van de Pol DJ, "et al." |title=The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. |journal=Am. J. Hum. Genet. |volume=64 |issue= 4 |pages= 1024–35 |year= 2000 |pmid= 10090887 |doi=
*cite journal | author=Fishman GA, Stone EM, Grover S, "et al." |title=Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. |journal=Arch. Ophthalmol. |volume=117 |issue= 4 |pages= 504–10 |year= 1999 |pmid= 10206579 |doi=
*cite journal | author=Körschen HG, Beyermann M, Müller F, "et al." |title=Interaction of glutamic-acid-rich proteins with the cGMP signalling pathway in rod photoreceptors. |journal=Nature |volume=400 |issue= 6746 |pages= 761–6 |year= 1999 |pmid= 10466724 |doi= 10.1038/23468
*cite journal | author=Zhang K, Garibaldi DC, Kniazeva M, "et al." |title=A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. |journal=Am. J. Ophthalmol. |volume=128 |issue= 6 |pages= 720–4 |year= 1999 |pmid= 10612508 |doi=External links
*
* [http://www.gdb.org/gdb-bin/genera/genera/hgd/GenomicSegment?!action=query&displayName=abca4 ABCA4 at The GDB Human Genome Database]PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes
Wikimedia Foundation. 2010.