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ABCA4 Gene

protein-coding   GIFtS: 62

GC01M094230
ATP-binding cassette, sub-family A (ABC1), member 4
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: STGD1, ABCR, RP19, STGD)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ABC10 2
ABCR 2, 3, 5
ARMD2 1, 2, 5
CORD3 2, 5
DKFZp781N1972 2
FFM 1, 2, 5
FLJ17534 2
OTTHUMP00000012366 2
RMP 2
RP19 2, 5
RmP 3
STGD 2
STGD1 2, 5
Descriptions
ATP binding cassette transporter 2
ATP-binding cassette sub-family A member 4 3
ATP-binding cassette, sub-family A (ABC1), member 4 2
ATP-binding cassette, sub-family A member 4 2
ATP-binding cassette, sub-family A, member 4 1
ATP-binding transporter, retina-specific 2
RIM ABC transporter 3
RIM protein 3
Stargardt disease protein 3
photoreceptor rim protein 2
retina-specific ABC transporter 2
External Ids
HGNC: 341
Entrez Gene: 242
UniProtKB: P783633
Ensembl: ENSG000001986917
Search outside databases for aliases for ABCA4 gene

Previous GC identifers: GC01M094859 GC01M093664 GC01M093808 GC01M093930 GC01M094170

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ABCA4:
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]

UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363
Function: May play a role in photoresponse. Retinoids, and most likely retinal, are the natural
substrates for transport by abcr in rod outer segments. May act in the visual cycle to flip
PE-all-trans-retinal adducts from the lumenal to the cytosolic face of the disk membrane, move
free all-trans-retinal from the lipid phase of the disk membrane to a juxtamembrane location, or
possibly reorient all-trans-retinal in the bilayer

Gene Wiki entry for ABCA4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ABCA4 gene  

Entrez Gene cytogenetic band: 1p22.1-p21   Ensembl cytogenetic band:  1p22.1   HGNC cytogenetic band: 1p22

ABCA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M094230:     (about GC identifiers)

Start:
94,230,981 bp from pter
End:
94,359,298 bp from pter
Size:
128,318 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000001.9  NT_032977.8  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363 (See protein sequence)
Recommended Name: Retinal-specific ATP-binding cassette transporter  
Size: 2273 amino acids; 255944 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: O15112 O60438 O60915 Q4LE31

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000341.2  

    ENSEMBL proteins: 
    ENSP00000354463 ENSP00000359245 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (ABCA4)
    Human Recombinant Proteins from Abnova (ABCA4)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624 membrane fraction TAS9054934
    GO:0005887 integral to plasma membrane IEA--
    GO:0016020 membrane IEA--
    About this table

    Antibodies for ABCA4: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (ABCA4), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (ABCA4)
    Novus Biologicals Antibodies for ABCA4

    Assays for ABCA4: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    4 InterPro domains/families:
     IPR005951 Rim_ABC_transpt
     IPR003593 ATPase_AAA+_core
     IPR003439 ABC_transporter-like
     IPR017871 ABC_transporter_CS


       GeneDecks  ABCA4 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P78363

    ProtoNet protein and cluster: P78363

    UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363
    Similarity: Belongs to the ABC transporter family. ABCA subfamily
    Similarity: Contains 2 ABC transporter domains

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ABCA4)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ABCA4)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000350

                  Applied Biosystems Silencer® siRNAs for ABCA4

                  Sigma-Aldrich siRNA and siRNA Panels for ABCA4  
                         Sigma-Aldrich shRNA for ABCA4  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000350
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000350
                                     untagged cDNA clone in CMV expression vector: NM_000350 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000350

    UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363
    Function: May play a role in photoresponse. Retinoids, and most likely retinal, are the natural
    substrates for transport by abcr in rod outer segments. May act in the visual cycle to flip
    PE-all-trans-retinal adducts from the lumenal to the cytosolic face of the disk membrane, move
    free all-trans-retinal from the lipid phase of the disk membrane to a juxtamembrane location, or
    possibly reorient all-trans-retinal in the bilayer

    Genatlas biochemistry entry for ABCA4:
    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

    4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abca4):

    homeostasis/metabolismnervous systempigmentationvision/eye

    5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0004012 phospholipid-translocating ATPase activity IEA--
    GO:0005215 transporter activity TAS9054934
    GO:0005524 ATP binding TAS9054934
    GO:0005548 phospholipid transporter activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Kegg Pathway  (Kegg details for ABCA4):
     hsa02010 ABC transporters

       GeneDecks  ABCA4 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  ABCA4 


    5/15 Interacting proteins for ABCA4 (ENSP000003544633) via UniProtKB, MINT, and/or STRING (see all 15 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELOVL4ENSP000003588313STRING (score=.955)
    CNGB1ENSP000002511023STRING (score=.817)
    INSENSP000003707313STRING (score=.815)
    ABCB1ENSP000002657243STRING (score=.767)
    CRXENSP000002219963STRING (score=.762)
    About this table

    5 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006649 phospholipid transfer to membrane IEA--
    GO:0006810 transport TAS9054934
    GO:0007603 phototransduction, visible light TAS9202155
    GO:0045494 photoreceptor cell maintenance IEA--
    GO:0050896 response to stimulus IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for ABCA4
    7 Novoseek chemical compound relationships for ABCA4 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 31.68 20 15471866 (4), 10874631 (2), 12888572 (2), 16533065 (2) (see all 10)
    phosphatidylethanolamine 22.28 6 15471866 (2), 10412977 (1)
    adp 1.51 3 12888572 (2), 15471866 (1)
    phospholipid 0.00 1 15044640 (1)
    cholesterol 0.00 1 17029687 (1)
    lipid 0.00 2 17973979 (1), 12962493 (1)
    gtp 0.00 1 15471866 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ABCA4)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ABCA4)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000350

                  Sigma-Aldrich siRNA and siRNA Panels for ABCA4  
                         Sigma-Aldrich shRNA for ABCA4  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000350  

    REFSEQ mRNAs for ABCA4 gene: 

    NM_000350.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000350  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000350
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000350
                                     untagged cDNA clone in CMV expression vector: NM_000350 

    Additional cDNA sequence: 

    AB210040.1 AF000148.1 AF001945.1 AK295818.1 AK296896.1 AK301733.1 AK301764.1 CR627391.1 
    DQ426859.1 U88667.1 

    13 DOTS entries:

    DT.314419  DT.97821623  DT.40115469  DT.314422  DT.121400333  DT.314421  DT.40255320  DT.121400340 
    DT.40116675  DT.40270936  DT.97765193  DT.97825837  DT.97843252 

    24/108 AceView cDNA sequences (see all 108 ):

    AI128615 BX473757 BM687039 H85972 BQ637768 BU730994 BQ637957 BM690592 
    CA394887 BM673711 AI827761 AA905109 CA390557 CA391240 BQ639783 AI564136 
    BX092191 BU740200 AA970792 CR627391 AI932378 CA398100 AA613174 BM694900 

    highest scoring ESTs for ABCA4:

    AF000148 AA019004 AL712362 AL712388 AL712461 AL712499 AL713392 U88667 AA054277 AA203561 

    Unigene Cluster for ABCA4:

    ATP-binding cassette, sub-family A (ABC1), member 4
    Hs.416707  [show with all ESTs]
    Unigene Representative Sequence: NM_000350


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000361520  ENST00000370225  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ABCA4 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ABCA4

    1 / 2 / 3

    4 probe-sets matching ABCA4 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    40963_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF000148 1.00 1.00 1.00 1

    210082_at2, 3 U133-A 1 1.00 1.00 -- -- U88667 0.80 1.00 0.91 1

    210082_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1569102_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GAAAAATAAA

    SOURCE GeneReport for Unigene cluster: Hs.416707

    Expression variation in blood from EXPOLDB for ABCA4

    UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363
    Tissue specificity: Retinal-specific. Seems to be exclusively found in the rims of rod
    photoreceptor cells

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for ABCA4 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ABCA41   -- ATP-binding cassette, sub-family A (ABC1), member 4 89.9(n)
    90.5(a)
    444852  NM_001003360.2  NP_001003360.2 
    chimpanzee
    (Pan troglodytes)
    ABCA41   -- ATP-binding cassette, sub-family A (ABC1), member 4 99.34(n)
    99.25(a)
    745972  XM_001152577.1  XP_001152577.1 
    cow
    (Bos taurus)
    ABCA41   -- ATP-binding cassette, sub-family A (ABC1), member 4 88.62(n)
    89.34(a)
    281584  NM_174221.2  NP_776646.1 
    rat
    (Rattus norvegicus)
    Abca41   -- ATP-binding cassette, sub-family A (ABC1), member 4 86(n)
    88.24(a)
    310836  XM_241525.4  XP_241525.3 
    mouse
    (Mus musculus)
    Abca41, 5 3 (61.80 cM)5
    ATP-binding cassette, sub-family A (ABC1), member 41, 5 86.48(n)1
    88.46(a)1
    113041  NM_007378.11  NP_031404.11 
     AF0001495  AK0529165  (see all 12)
    About this table        Species with no ortholog for ABCA4

    ENSEMBL Gene Tree for ABCA4
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ABCA4 gene
    ABCA12  ABCA72  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363
    Polymorphism: The variant Ala-863 is present in the general population at a frequency of
    approximately 3% and 1% in Northern Europe and United States, respectively. It is a mild
    alteration probably leading to STGD phenotype only in combination with a more severe allele. The
    variant Glu-1961 is found with high frequency in healthy individuals of Somali ancestry


    10/1377 NCBI SNPs in ABCA4 are shown (see all 1377 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 562)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs31128311,2
    A,C,F,H,O94316822(-) GGAACA/GCGTTA 1 H/R mis1 ese312Minor allele frequency- N:0.01EA NA EU WA 1050
    rs66666521,2
    A,C,F,H94234305(+) CATGAC/ATTTCA 1 I/S mis111Minor allele frequency- A:0.17NA EU EA WA 972
    rs66732871,2
    A,C,F,H94359992(+) AGGTGA/GGGGAT 1 -- ng314Minor allele frequency- G:0.03EU EA WA 416
    rs18005491,2
    C,F,H,O94268641(-) GTTCAC/TGGTAC 1 T/M mis1 ese312Minor allele frequency- T:0.02MN NA EU EA WA 1164
    rs21518461,2
    A,C,F,H94360275(-) AAACTC/ATCTCT 1 -- ng315Minor allele frequency- A:0.49EU EA WA 1916
    rs107474591,2
    A,C,F,H94359702(+) TCTTTC/TATCTT 1 -- ng317Minor allele frequency- T:0.07NA EU EA WA 546
    rs118028871,2
    C,F,H94359432(+) CACAAG/ATGGCT 1 -- ng314Minor allele frequency- A:0.03EU EA WA 408
    rs37619061,2
    C,F,H94359950(+) TTCCAG/TCCCTG 1 -- ng317Minor allele frequency- T:0.24NA EU EA WA 556
    rs118062231,2
    C,F,H94359478(+) GAAACC/AAAGAC 1 -- ng314Minor allele frequency- A:0.03EU EA WA 408
    rs37894521,2
    C,F,H94360089(+) TGTGTT/ACTCTT 1 -- ng31 tfbs314Minor allele frequency- A:0.25EA NA EU WA 2644
    About this table

    HapMap Linkage Disequilibrium images for ABCA4 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 601691   disorders: 248200  601718  604116  153800  248200  248200  

    UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363

  • Defects in ABCA4 are the cause of Stargardt disease type 1 (STGD1) [MIM:248200]. STGD is
    one of the most frequent causes of macular degeneration in childhood. It is characterized by
    macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral
    retina, and subretinal deposition of lipofuscin-like material. STGD1 inheritance is autosomal
    recessive
  • Defects in ABCA4 are the cause of fundus flavimaculatus (FFM) [MIM:248200]. FFM is an
    autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt
    disease, FFM is characterized by later onset and slowly progressive course
  • Defects in ABCA4 may be a cause of age-related macular degeneration type 2 (ARMD2)
    [MIM:153800]. ARMD is 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 (known as drusen) that
    lie beneath the retinal pigment epithelium and within an elastin-containing structure known as
    Bruch membrane
  • Defects in ABCA4 are the cause of cone-rod dystrophy type 3 (CORD3) [MIM:604116]. CORDs
    are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are
    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
  • Defects in ABCA4 are the cause of retinitis pigmentosa type 19 (RP19) [MIM:601718]. RP
    leads to degeneration of retinal photoreceptor cells. 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. Inheritance is autosomal recessive
  • 10/15 Novoseek disease relationships for ABCA4 gene (see all 15 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    stargardts disease 98.81 127 10612508 (4), 10746567 (3), 10711710 (3), 12224481 (3) (see all 67)
    stgd1 96.43 37 10711710 (4), 9973280 (3), 11379881 (3), 10958761 (2) (see all 14)
    cone-rod dystrophy 95.97 46 12224481 (4), 16681420 (3), 12796258 (3), 10958761 (2) (see all 27)
    fundus flavimaculatus 95.87 22 10206579 (2), 10509673 (2), 12192456 (2), 10396622 (1) (see all 15)
    retinitis pigmentosa 85.57 53 12224481 (3), 12353176 (3), 18285826 (3), 10874631 (2) (see all 27)
    retinal degeneration 75.39 11 16374319 (1), 15108289 (1), 16546111 (1), 9703434 (1) (see all 8)
    retinopathy 71.19 28 10396622 (2), 11384574 (2), 11017087 (2), 17653054 (1) (see all 18)
    blindness 64.94 4 10958763 (1), 14709597 (1), 14750597 (1)
    maculopathy age-related 54.19 2 12824224 (1), 15696369 (1)
    maculopathy 50.83 4 18024811 (2), 10958763 (1)
    About this table

    Human Gene Mutation Database: ABCA4
    Genetic Association Database: ABCA4
    Human Genome Epidemiology Navigator: ABCA4 (22 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/155 PubMed articles for ABCA4 gene (see all 155 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 24 HGNC: 34 AceView: ABCA4 Ensembl:ENSG00000198691 euGenes: HUgn24
    ECgene: ABCA4 H-InvDB: ABCA4
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    Mutations of the ABCA4 genehttp://www.retina-international.com/sci-news/abcrmut.htm
    GeneReviewshttp://www.genetests.org/query?gene=ABCA4
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for ABCA4:
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      Free SNP selection tool



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     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for ABCA4

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