ATP Binding Cassette Transporter A4 (ABCA4)

ABC-A4; ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19; STGD; STGD1; Stargardt disease protein; Retinal-specific ATP-binding cassette transporter; RIM ABC transporter

SPN	T164
HGNC	34
MGI	109424
PubMed	11527935
RGD	1309445
UniProt	P78363
Wiki	ABCA4

ABCA4 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. 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, a form of juvenile-onset macular degeneration.

Reference

"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy."
Nat. Genet. 15:236-246(1997) [PubMed] [Europe PMC] [Abstract]

"The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)."
FEBS Lett. 409:247-252(1997) [PubMed] [Europe PMC] [Abstract]

"Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease."
Genomics 48:139-142(1998) [PubMed] [Europe PMC] [Abstract]

"Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease."
Hum. Genet. 102:21-26(1998) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"Mapping of transcription start sites of human retina expressed genes."
BMC Genomics 8:42-42(2007) [PubMed] [Europe PMC] [Abstract]

"Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease."
J. Biol. Chem. 274:8269-8281(1999) [PubMed] [Europe PMC] [Abstract]

"Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR."
Hum. Mol. Genet. 7:355-362(1998) [PubMed] [Europe PMC] [Abstract]

"Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites."
J. Biol. Chem. 276:23539-23546(2001) [PubMed] [Europe PMC] [Abstract]

"Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration."
Science 277:1805-1807(1997) [PubMed] [Europe PMC] [Abstract]

"Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies."
Eur. J. Hum. Genet. 6:291-295(1998) [PubMed] [Europe PMC] [Abstract]

"Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease."
Am. J. Hum. Genet. 64:422-434(1999) [PubMed] [Europe PMC] [Abstract]

"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. 64:1024-1035(1999) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease."
Am. J. Ophthalmol. 128:720-724(1999) [PubMed] [Europe PMC] [Abstract]

"Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene."
Arch. Ophthalmol. 117:504-510(1999) [PubMed] [Europe PMC] [Abstract]

"Further evidence for an association of ABCR alleles with age-related macular degeneration."
Am. J. Hum. Genet. 67:487-491(2000) [PubMed] [Europe PMC] [Abstract]

"A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration."
Am. J. Hum. Genet. 67:800-813(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy."
Am. J. Hum. Genet. 67:960-966(2000) [PubMed] [Europe PMC] [Abstract]

"Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance."
Hum. Genet. 106:244-248(2000) [PubMed] [Europe PMC] [Abstract]

"An analysis of ABCR mutations in British patients with recessive retinal dystrophies."
Invest. Ophthalmol. Vis. Sci. 41:16-19(2000) [PubMed] [Europe PMC] [Abstract]

"New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease."
Invest. Ophthalmol. Vis. Sci. 41:892-897(2000) [PubMed] [Europe PMC] [Abstract]

"Biochemical defects in ABCR protein variants associated with human retinopathies."
Nat. Genet. 26:242-246(2000) [PubMed] [Europe PMC] [Abstract]

"Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1)."
Acta Ophthalmol. Scand. 79:524-530(2001) [PubMed] [Europe PMC] [Abstract]

"Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?"
Am. J. Ophthalmol. 131:761-766(2001) [PubMed] [Europe PMC] [Abstract]

"Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration."
Arch. Ophthalmol. 119:745-751(2001) [PubMed] [Europe PMC] [Abstract]

"Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)."
Hum. Genet. 108:346-355(2001) [PubMed] [Europe PMC] [Abstract]

"Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies."
Hum. Mutat. 17:504-510(2001) [PubMed] [Europe PMC] [Abstract]

"An analysis of allelic variation in the ABCA4 gene."
Invest. Ophthalmol. Vis. Sci. 42:1179-1189(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration."
Invest. Ophthalmol. Vis. Sci. 42:2229-2236(2001) [PubMed] [Europe PMC] [Abstract]

"Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8."
J. Hum. Genet. 47:285-310(2002) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants."
Br. J. Ophthalmol. 93:614-621(2009) [PubMed] [Europe PMC] [Abstract]

"Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease."
Br. J. Ophthalmol. 93:1359-1364(2009) [PubMed] [Europe PMC] [Abstract]

"Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy."
BMC Med. Genet. 15:11-11(2014) [PubMed] [Europe PMC] [Abstract]