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Aliases for ABCA4 Gene

Aliases for ABCA4 Gene

  • ATP Binding Cassette Subfamily A Member 4 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 2 3
  • ATP-Binding Cassette Transporter, Retinal-Specific 2 3
  • ATP-Binding Cassette Sub-Family A Member 4 3 4
  • Stargardt Disease Protein 3 4
  • RIM ABC Transporter 3 4
  • RIM Protein 3 4
  • ABCR 3 4
  • RMP 3 4
  • Retinal-Specific ATP-Binding Cassette Transporter 3
  • ATP-Binding Transporter, Retina-Specific 3
  • ATP Binding Cassette Transporter 3
  • Retina-Specific ABC Transporter 3
  • Photoreceptor Rim Protein 3
  • Stargardt Disease 2
  • EC 3.6.3 61
  • ABC10 3
  • ARMD2 3
  • CORD3 3
  • STGD1 3
  • RP19 3
  • STGD 3
  • FFM 3

External Ids for ABCA4 Gene

Previous HGNC Symbols for ABCA4 Gene

  • STGD1
  • ABCR
  • RP19
  • STGD

Previous GeneCards Identifiers for ABCA4 Gene

  • GC01M094859
  • GC01M093664
  • GC01M093808
  • GC01M093930
  • GC01M094170
  • GC01M094230
  • GC01M094458
  • GC01M092582

Summaries for ABCA4 Gene

Entrez Gene Summary for ABCA4 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, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCA4 Gene

ABCA4 (ATP Binding Cassette Subfamily A Member 4) is a Protein Coding gene. Diseases associated with ABCA4 include Cone-Rod Dystrophy 3 and Stargardt Disease 1. Among its related pathways are Metabolism of fat-soluble vitamins and Regulation of activated PAK-2p34 by proteasome mediated degradation. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA1.

UniProtKB/Swiss-Prot for ABCA4 Gene

  • In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.

Gene Wiki entry for ABCA4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA4 Gene

Genomics for ABCA4 Gene

Regulatory Elements for ABCA4 Gene

Enhancers for ABCA4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F094090 1.5 FANTOM5 Ensembl ENCODE 12.3 +27.2 27184 7.9 INSM2 FEZF1 RAD21 EGR2 ZNF362 ZNF843 NR2F2 SMARCA4 ZNF610 ZNF341 ABCA4 GC01P094099 GC01P093981
GH01F094066 1.6 FANTOM5 Ensembl ENCODE 11.3 +51.1 51130 8.0 MLX ARID4B FEZF1 ELK1 FOS DEK MIER2 REST PPARG KAT8 ABCA4 ARHGAP29 DR1 GC01P094099 GC01P093981
GH01F094321 1.6 FANTOM5 Ensembl ENCODE 10.4 -204.2 -204196 7.3 ATF1 SIN3A FEZF1 GLIS2 FOS SP3 JUNB TSHZ1 TBX21 ZNF518A LOC107985092 DR1 CCDC18-AS1 DNTTIP2 ABCD3 ABCA4 ARHGAP29 F3 LOC105378859 GAPDHP29
GH01F094011 1.1 Ensembl ENCODE 14.7 +108.2 108214 2.3 DDX20 TEAD4 MAX ZNF175 ZIC2 ZFHX2 POLR2A ZNF366 PRDM10 EGR2 ABCA4 GC01P093981 GC01P094099
GH01F094243 1.4 FANTOM5 ENCODE 11.1 -125.9 -125858 7.4 MLX ARID4B SIN3A DMAP1 FEZF1 ZNF48 SLC30A9 ZNF766 GLIS2 ZNF416 LOC107985092 ABCA4 ARHGAP29 GC01M094182
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCA4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCA4 Gene

Chromosome:
1
Start:
93,992,835 bp from pter
End:
94,121,149 bp from pter
Size:
128,315 bases
Orientation:
Minus strand

Genomic View for ABCA4 Gene

Genes around ABCA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA4 Gene

Proteins for ABCA4 Gene

  • Protein details for ABCA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78363-ABCA4_HUMAN
    Recommended name:
    Retinal-specific ATP-binding cassette transporter
    Protein Accession:
    P78363
    Secondary Accessions:
    • O15112
    • O60438
    • O60915
    • Q0QD48
    • Q4LE31

    Protein attributes for ABCA4 Gene

    Size:
    2273 amino acids
    Molecular mass:
    255944 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAE06122.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ABCA4 Gene

Selected DME Specific Peptides for ABCA4 Gene

P78363:
  • LDEPTTG
  • NGAGKTT

Post-translational modifications for ABCA4 Gene

  • Glycosylation at Asn 98, Asn 415, Asn 444, Asn 504, Asn 1469, Asn 1529, Asn 1588, and Asn 1662
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for ABCA4
  • Santa Cruz Biotechnology (SCBT) Antibodies for ABCA4

Domains & Families for ABCA4 Gene

Gene Families for ABCA4 Gene

Graphical View of Domain Structure for InterPro Entry

P78363

UniProtKB/Swiss-Prot:

ABCA4_HUMAN :
  • Contains 2 ABC transporter domains.
  • Belongs to the ABC transporter superfamily. ABCA family.
Domain:
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.
genes like me logo Genes that share domains with ABCA4: view

Function for ABCA4 Gene

Molecular function for ABCA4 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily A,member 4,retinal specific,localized to the rim of rod phosphoreceptor outer segment discs (RMP protein) cell-specific ATP binding transporter gene
UniProtKB/Swiss-Prot Function:
In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.

Enzyme Numbers (IUBMB) for ABCA4 Gene

Gene Ontology (GO) - Molecular Function for ABCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004012 phospholipid-translocating ATPase activity IEA --
GO:0005215 transporter activity IEA,TAS 9054934
GO:0005395 eye pigment precursor transporter activity TAS --
GO:0005524 ATP binding IEA --
GO:0005548 phospholipid transporter activity IEA --
genes like me logo Genes that share ontologies with ABCA4: view
genes like me logo Genes that share phenotypes with ABCA4: view

Human Phenotype Ontology for ABCA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCA4 Gene

MGI Knock Outs for ABCA4:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCA4

miRNA for ABCA4 Gene

miRTarBase miRNAs that target ABCA4

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ABCA4 Gene

Localization for ABCA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA4 Gene

Membrane; Multi-pass membrane protein. Note=Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCA4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ABCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA,TAS 9054934
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with ABCA4: view

Pathways & Interactions for ABCA4 Gene

genes like me logo Genes that share pathways with ABCA4: view

Gene Ontology (GO) - Biological Process for ABCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006649 phospholipid transfer to membrane IEA --
GO:0006810 transport IEA,TAS 9054934
GO:0006869 lipid transport IBA --
GO:0007601 visual perception IEA --
genes like me logo Genes that share ontologies with ABCA4: view

No data available for SIGNOR curated interactions for ABCA4 Gene

Drugs & Compounds for ABCA4 Gene

(5) Drugs for ABCA4 Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
STARGEN Pharma 0

(6) Additional Compounds for ABCA4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABCA4: view

Transcripts for ABCA4 Gene

Unigene Clusters for ABCA4 Gene

ATP-binding cassette, sub-family A (ABC1), member 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA4 Gene

No ASD Table

Relevant External Links for ABCA4 Gene

GeneLoc Exon Structure for
ABCA4
ECgene alternative splicing isoforms for
ABCA4

Expression for ABCA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABCA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCA4 Gene

This gene is overexpressed in Kidney - Cortex (x24.0) and Skin - Not Sun Exposed (Suprapubic) (x4.1).

Protein differential expression in normal tissues from HIPED for ABCA4 Gene

This gene is overexpressed in Retina (61.0) and Monocytes (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCA4 Gene



Protein tissue co-expression partners for ABCA4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCA4 Gene:

ABCA4

SOURCE GeneReport for Unigene cluster for ABCA4 Gene:

Hs.416707

mRNA Expression by UniProt/SwissProt for ABCA4 Gene:

P78363-ABCA4_HUMAN
Tissue specificity: Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.
genes like me logo Genes that share expression patterns with ABCA4: view

Primer Products

Orthologs for ABCA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCA4 34 35
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia ABCA4 34 35
  • 89.9 (n)
cow
(Bos Taurus)
Mammalia ABCA4 34 35
  • 88.65 (n)
mouse
(Mus musculus)
Mammalia Abca4 34 16 35
  • 86.47 (n)
rat
(Rattus norvegicus)
Mammalia Abca4 34
  • 85.95 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCA4 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCA4 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCA4 34 35
  • 70.88 (n)
lizard
(Anolis carolinensis)
Reptilia ABCA4 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abca4 34
  • 67.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17529 34
zebrafish
(Danio rerio)
Actinopterygii ABCA4 (4 of 4) 35
  • 67 (a)
OneToMany
abca4b 34 35
  • 66.19 (n)
abca4a 35
  • 64 (a)
OneToMany
CABZ01103841.1 35
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BG:DS00797.5 36
  • 33 (a)
CG1819 36
  • 28 (a)
Species where no ortholog for ABCA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABCA4 Gene

ENSEMBL:
Gene Tree for ABCA4 (if available)
TreeFam:
Gene Tree for ABCA4 (if available)

Paralogs for ABCA4 Gene

Paralogs for ABCA4 Gene

genes like me logo Genes that share paralogs with ABCA4: view

Variants for ABCA4 Gene

Sequence variations from dbSNP and Humsavar for ABCA4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121909205 Stargardt disease 1 (STGD1) [MIM:248200], Pathogenic 94,120,994(-) CCCTG(A/C/T)GGAAA reference, synonymous-codon, missense
rs121909207 Stargardt disease 1 (STGD1) [MIM:248200], Pathogenic 94,014,665(-) TGTAC(C/G)CAGCA reference, missense
rs150774447 Stargardt disease 1 (STGD1) [MIM:248200], Pathogenic 94,111,579(+) AATGG(A/C/T)CTTTA reference, missense
rs1762111 Cone-rod dystrophy 3 (CORD3) [MIM:604116], Fundus flavimaculatus (FFM) [MIM:248200], Macular degeneration, age-related, 2 (ARMD2) [MIM:153800], Stargardt disease 1 (STGD1) [MIM:248200], Uncertain significance 94,021,934(-) TTCCA(C/T)TGGAG reference, missense
rs1800548 Stargardt disease 1 (STGD1) [MIM:248200], Macular degeneration, age-related, 2 (ARMD2) [MIM:153800], untested 94,077,833(-) GTGAA(A/G)AAGGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ABCA4 Gene

Variant ID Type Subtype PubMed ID
nsv950517 CNV deletion 24416366
nsv546850 CNV loss 21841781
nsv546849 CNV gain 21841781
nsv523430 CNV loss 19592680
nsv516137 CNV loss 19592680
nsv476507 CNV novel sequence insertion 20440878
nsv475023 CNV novel sequence insertion 20440878

Variation tolerance for ABCA4 Gene

Residual Variation Intolerance Score: 99.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.17; 93.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCA4 Gene

Human Gene Mutation Database (HGMD)
ABCA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA4 Gene

Disorders for ABCA4 Gene

MalaCards: The human disease database

(36) MalaCards diseases for ABCA4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy 3
  • cord3
stargardt disease 1
  • fundus flavimaculatus
macular degeneration, age-related, 2
  • age related macular degeneration 2
stargardt disease
  • stargardt disease 1
retinitis pigmentosa 19
  • rp19
- elite association - COSMIC cancer census association via MalaCards
Search ABCA4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ABCA4_HUMAN
  • Cone-rod dystrophy 3 (CORD3) [MIM:604116]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269 PubMed:10958761, ECO:0000269 PubMed:11385708, ECO:0000269 PubMed:11527935}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Fundus flavimaculatus (FFM) [MIM:248200]: Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course. {ECO:0000269 PubMed:11379881, ECO:0000269 PubMed:11385708, ECO:0000269 PubMed:9781034}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:19028736, ECO:0000269 PubMed:9295268}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Retinitis pigmentosa 19 (RP19) [MIM:601718]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Stargardt disease 1 (STGD1) [MIM:248200]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO:0000269 PubMed:10090887, ECO:0000269 PubMed:10206579, ECO:0000269 PubMed:10612508, ECO:0000269 PubMed:10634594, ECO:0000269 PubMed:10711710, ECO:0000269 PubMed:10746567, ECO:0000269 PubMed:10958763, ECO:0000269 PubMed:11328725, ECO:0000269 PubMed:11385708, ECO:0000269 PubMed:11527935, ECO:0000269 PubMed:11594993, ECO:0000269 PubMed:18977788, ECO:0000269 PubMed:24444108, ECO:0000269 PubMed:9054934, ECO:0000269 PubMed:9490294, ECO:0000269 PubMed:9503029, ECO:0000269 PubMed:9781034, ECO:0000269 PubMed:9973280}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABCA4

Genetic Association Database (GAD)
ABCA4
Human Genome Epidemiology (HuGE) Navigator
ABCA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCA4
genes like me logo Genes that share disorders with ABCA4: view

No data available for Genatlas for ABCA4 Gene

Publications for ABCA4 Gene

  1. Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants. (PMID: 19028736) Aguirre-Lamban J. … Ayuso C. (Br. J. Ophthalmol. 2009) 3 4 22 46 64
  2. An analysis of allelic variation in the ABCA4 gene. (PMID: 11328725) Webster A.R. … Stone E.M. (Invest. Ophthalmol. Vis. Sci. 2001) 3 4 22 46 64
  3. Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). (PMID: 11379881) Yatsenko A.N. … Lupski J.R. (Hum. Genet. 2001) 3 4 22 46 64
  4. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. (PMID: 11346402) Guymer R.H. … Stone E.M. (Arch. Ophthalmol. 2001) 3 4 22 46 64
  5. Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. (PMID: 18977788) Riveiro-Alvarez R. … Ayuso C. (Br. J. Ophthalmol. 2009) 3 4 46 64

Products for ABCA4 Gene

Sources for ABCA4 Gene

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