ABCA4

ATP-binding cassette, sub-family A (ABC1), member 4
Identifiers
Symbols	ABCA4 ; ABC10; ABCR; ARMD2; CORD3; DKFZp781N1972; FFM; RMP; RP19; STGD; STGD1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 298
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4, is a human gene.

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.

See also

• ATP-binding cassette transporter

Further reading

• MacDonald IM (2006). "Genetic aspects of age-related macular degeneration". Can. J. Ophthalmol. 40 (3): 288–92. doi:10.1139/i05-002. PMID 15947798.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• Allikmets R, Singh N, Sun H; et al. (1997). "A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy". Nat. Genet. 15 (3): 236–46. doi:10.1038/ng0397-236. PMID 9054934.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Martínez-Mir A, Bayés M, Vilageliu L; et al. (1997). "A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21". Genomics. 40 (1): 142–6. PMID 9070931.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Azarian SM, Travis GH (1997). "The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)". FEBS Lett. 409 (2): 247–52. PMID 9202155.
• Sun H, Nathans J (1997). "Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments". Nat. Genet. 17 (1): 15–6. doi:10.1038/ng0997-15. PMID 9288089.
• Allikmets R (1997). "A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy". Nat. Genet. 17 (1): 122. doi:10.1038/ng0997-122a. PMID 9288113.
• Allikmets R, Shroyer NF, Singh N; et al. (1997). "Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration". Science. 277 (5333): 1805–7. PMID 9295268.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Martínez-Mir A, Paloma E, Allikmets R; et al. (1998). "Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR". Nat. Genet. 18 (1): 11–2. doi:10.1038/ng0198-11. PMID 9425888.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cremers FP, van de Pol DJ, van Driel M; et al. (1998). "Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR". Hum. Mol. Genet. 7 (3): 355–62. PMID 9466990.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nasonkin I, Illing M, Koehler MR; et al. (1998). "Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease". Hum. Genet. 102 (1): 21–6. PMID 9490294.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerber S, Rozet JM, van de Pol TJ; et al. (1998). "Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease". Genomics. 48 (1): 139–42. doi:10.1006/geno.1997.5164. PMID 9503029.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Azarian SM, Megarity CF, Weng J; et al. (1998). "The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis". Hum. Genet. 102 (6): 699–705. PMID 9703434.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rozet JM, Gerber S, Souied E; et al. (1998). "Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies". Eur. J. Hum. Genet. 6 (3): 291–5. doi:10.1038/sj.ejhg/5200221. PMID 9781034.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lewis RA, Shroyer NF, Singh N; et al. (1999). "Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease". Am. J. Hum. Genet. 64 (2): 422–34. PMID 9973280.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sun H, Molday RS, Nathans J (1999). "Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease". J. Biol. Chem. 274 (12): 8269–81. PMID 10075733.CS1 maint: Multiple names: authors list (link)
• Maugeri A, van Driel MA, van de Pol DJ; et al. (2000). "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". Am. J. Hum. Genet. 64 (4): 1024–35. PMID 10090887.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fishman GA, Stone EM, Grover S; et al. (1999). "Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene". Arch. Ophthalmol. 117 (4): 504–10. PMID 10206579.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Körschen HG, Beyermann M, Müller F; et al. (1999). "Interaction of glutamic-acid-rich proteins with the cGMP signalling pathway in rod photoreceptors". Nature. 400 (6746): 761–6. doi:10.1038/23468. PMID 10466724.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zhang K, Garibaldi DC, Kniazeva M; et al. (1999). "A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease". Am. J. Ophthalmol. 128 (6): 720–4. PMID 10612508.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• ABCA4+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• ABCA4 at The GDB Human Genome Database

This article incorporates text from the United States National Library of Medicine, which is in the public domain.