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ABCA5 Gene

protein-coding   GIFtS: 57

GC17M064754
ATP-binding cassette, sub-family A (ABC1), member 5
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ABC13 2
DKFZp451F117 2
DKFZp779N2435 2
EST90625 1, 2
FLJ16381 2
KIAA1888 3, 5
Descriptions
ATP-binding cassette A5 2
ATP-binding cassette, sub-family A (ABC1), member 5 2
ATP-binding cassette, sub-family A , member 5 2
ATP-binding cassette, sub-family A, member 5 1
External Ids
HGNC: 351
Entrez Gene: 234612
UniProtKB: Q8WWZ73
Ensembl: ENSG000001542657
Search outside databases for aliases for ABCA5 gene

Previous GC identifers: GC17M067042 GC17M070203 GC17M067707 GC17M067839

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

EntrezGene summary for ABCA5:
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, and White). This encoded 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 gene is clustered among 4 other ABC1 family members on 17q24, but neither the
substrate nor the function of this gene is known. Alternative splicing of this gene results in
several transcript variants; however, not all variants have been fully described. [provided by
RefSeq]

UniProtKB/Swiss-Prot: ABCA5_HUMAN, Q8WWZ7
Function: May play a role in the processing of autolysosomes (By similarity)

(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 ABCA5 gene  

Entrez Gene cytogenetic band: 17q24.3   Ensembl cytogenetic band:  17q24.3   HGNC cytogenetic band: 17q21-q25

ABCA5 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 17         GeneLoc Exon Structure

GeneLoc location for GC17M064754:     (about GC identifiers)

Start:
64,754,386 bp from pter
End:
64,834,885 bp from pter
Size:
80,500 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000017.9  NT_010641.15  
(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: ABCA5_HUMAN, Q8WWZ7 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family A member 5  
Size: 1642 amino acids; 186508 Da
Subcellular location: Lysosome membrane; Multi-pass membrane protein. Late endosome membrane;
Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein (By similarity)
Developmental stage: Expressed in fetal liver, kidney and brain
Secondary accessions: Q8IVJ2 Q96LJ1 Q96MS4 Q96PZ9 Q9NY14
Alternative splicing: 3 isoforms:  Q8WWZ7-1   Q8WWZ7-2   Q8WWZ7-3   

Post-translational modifications:

  • N-glycosylated (By similarity)1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_061142.2  NP_758424.1  


    ENSEMBL proteins: 
    ENSP00000376444 ENSP00000319766 ENSP00000376443 


    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 (ABCA5)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139 Golgi membrane IEA--
    GO:0005765 lysosomal membrane IEA--
    GO:0005768 endosome IEA--
    GO:0005794 Golgi apparatus IEA--
    GO:0016020 membrane IEA--
    About this table

    Antibodies for ABCA5: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ABCA5
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (ABCA5), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for ABCA5

    Assays for ABCA5: 
    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

    3 InterPro domains/families:
     IPR003593 ATPase_AAA+_core
     IPR003439 ABC_transporter-like
     IPR017871 ABC_transporter_CS


       GeneDecks  ABCA5 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q8WWZ7

    ProtoNet protein and cluster: Q8WWZ7

    UniProtKB/Swiss-Prot: ABCA5_HUMAN, Q8WWZ7
    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 (ABCA5)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ABCA5)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_172232

                  Applied Biosystems Silencer® siRNAs for ABCA5

                  Sigma-Aldrich siRNA and siRNA Panels for ABCA5  
                         Sigma-Aldrich shRNA for ABCA5  
                         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 clones in CMV expression vector (see all 2): NM_018672
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_018672
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_018672 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_018672

    UniProtKB/Swiss-Prot: ABCA5_HUMAN, Q8WWZ7
    Function: May play a role in the processing of autolysosomes (By similarity)

    Genatlas biochemistry entry for ABCA5:
    ATP binding cassette superfamily,subfamily A,member 5,mouse ABC4 homolog

    8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abca5):

    behavior/neurologicalendocrine/exocrine glandhomeostasis/metabolismlife span-post-weaning/aging
    liver/biliary systemmusclevision/eye

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0005524 ATP binding IEA--
    GO:0016887 ATPase 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 ABCA5):
     hsa02010 ABC transporters

       GeneDecks  ABCA5 for the pathways selected above  
    About GeneDecksing

    1 Interacting protein for ABCA5 (ENSP000003197663) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCA9ENSP000003422163STRING (score=.726)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810 transport 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 ABCA5

    (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 (ABCA5)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ABCA5)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_172232

                  Sigma-Aldrich siRNA and siRNA Panels for ABCA5  
                         Sigma-Aldrich shRNA for ABCA5  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_018672  NM_172232  

    REFSEQ mRNAs for ABCA5 gene (2 alternative transcripts): 

    NM_018672.3   NM_172232.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_018672  NM_172232  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_018672
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_018672
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_018672 

    Additional cDNA sequence: 

    AB067475.1 AJ275973.3 AJ512612.1 AK056533.1 AK058170.1 AK094416.1 AK096664.1 AK122803.1 
    AK292592.1 AY028897.1 BC029426.1 BC054480.1 BC070126.1 BC146819.1 BX640746.1 BX647447.1 
    BX648540.1 U66672.1 

    18 DOTS entries:

    DT.101965656  DT.100718026  DT.101984314  DT.100775117  DT.92427874  DT.40280931  DT.99971934  DT.87046995 
    DT.100775118  DT.100775120  DT.86835941  DT.120986894  DT.120986890  DT.120987012  DT.95163499  DT.97775229 
    DT.100649690  DT.92033695 

    24/208 AceView cDNA sequences (see all 208 ):

    AB067475 AK058170 BF061307 BX280304 BG566938 CA941702 BC029426 BU686259 
    AL698749 BQ441353 AW189609 CD629438 CA773136 NM_172232 AW440582 BG288838 
    AY247065 AA988796 AI698175 AY028897 AI032927 CA773849 BX415090 AI350336 

    highest scoring ESTs for ABCA5:

    AA889893 AI149299 AI220973 AI568925 AJ275973 AJ512612 AL712051 BC029426 BF061307 BF448717 

    Unigene Cluster for ABCA5:

    ATP-binding cassette, sub-family A (ABC1), member 5
    Hs.421474  [show with all ESTs]
    Unigene Representative Sequence: NM_018672


    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA5

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                  -         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:              -     -                                                                                                                                       

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b
    SP1:                                                                                -                                 
    SP2:                                                                                                                  
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                                                                                  

    About this scheme

    ECgene alternative splicing isoforms for ABCA5

    3 Ensembl transcripts including schematic representations:
    ENST00000392677  ENST00000320086  ENST00000392676  
    (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

    ABCA5 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ABCA5

    1 / 2 / 3

    4 probe-sets matching ABCA5 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    38574_at2, 3 U95-A 1 1.00 1.00 0.92 0.50 U66672 0.60 1.00 0.82 1

    63906_f_at2, 3 U95-C 3341 0.75 0.00 0.43 1.51 R98835 0.20 0.02 0.14 1

    213353_at2, 3 U133-A 1 1.00 1.00 -- -- BF693921 0.60 1.00 0.82 1

    213353_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  ABCA5 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TAAATAGGCA

    SOURCE GeneReport for Unigene cluster: Hs.421474

    Expression variation in blood from EXPOLDB for ABCA5

    UniProtKB/Swiss-Prot: ABCA5_HUMAN, Q8WWZ7
    Tissue specificity: Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney,
    liver and placenta

    (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 ABCA5 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ABCA51   -- ATP-binding cassette, sub-family A (ABC1), member 5 92.73(n)
    93.06(a)
    480455  XM_537573.2  XP_537573.2 
    chimpanzee
    (Pan troglodytes)
    ABCA51   -- ATP-binding cassette, sub-family A (ABC1), member 5 99.53(n)
    99.03(a)
    454848  XM_001166542.1  XP_001166542.1 
    cow
    (Bos taurus)
    ABCA51   -- ATP-binding cassette, sub-family A (ABC1), member 5 85.69(n)
    87.25(a)
    510497  XM_587636.3  XP_587636.3 
    rat
    (Rattus norvegicus)
    Abca51   -- ATP-binding cassette, sub-family A (ABC1), member 5 86.22(n)
    90.26(a)
    286970  NM_173307.1  NP_775429.1 
    mouse
    (Mus musculus)
    Abca51, 5 115
    ATP-binding cassette, sub-family A (ABC1), member 51, 5 86.4(n)1
    89.52(a)1
    2172651  NM_147219.11  NP_671752.11 
     AB0976755  AF4918425  (see all 20)
    About this table        Species with no ortholog for ABCA5

    ENSEMBL Gene Tree for ABCA5
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ABCA5 gene
    ABCA102  ABCA92  ABCA62  ABCA82  

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


    10/412 NCBI SNPs in ABCA5 are shown (see all 412 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 129)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs4825291,2
    A,C,F,H64836594(+) TATCCA/CTGATA 1 -- ng31 tfbs33Minor allele frequency- C:0.45EU EA 300
    rs5574911,2
    A,C,F,H64778912(+) ATGCAC/TCACAT 2 M/V mis114Minor allele frequency- T:0.47EA NA EU WA 1236
    rs5360091,2
    A,C,F,H64785477(+) TAGAGA/CAGCCT 2 A/S mis1 ese38Minor allele frequency- C:0.19EU EA WA 828
    rs158861,2
    C,F,H64754884(+) TTATGA/TATTAG 2 -- ut31 ese323Minor allele frequency- N:0.00MN EA CSAM NA EU WA 3582
    rs176865691,2
    C,F,H64802435(+) TCTTCT/CGAATA 2 R/Q mis1 ese311Minor allele frequency- C:0.17NA EU EA WA 980
    --
    rs116506581,2
    A,C64824812(+) gcataC/Tacata 2 -- int1 ng310--------
    rs72259071,2
    A,H64822270(+) agatgG/Tattaa 2 -- int1 ut514Minor allele frequency- T:0.00EU EA WA 408
    rs115447151,2
    C,F64816042(-) TACAAG/ACATCC 2 T/A mis14Minor allele frequency- A:0.10EU EA WA 420
    rs123831,2
    C,H64820858(+) TTTCTG/TCATGA 2 Q/K mis1 ese39Minor allele frequency- T:0.01MN EU EA WA 1016
    rs3339381,2
    A,C64835376(+) GAGTCC/TTCTGC 1 -- ng310--------
    About this table

    HapMap Linkage Disequilibrium images for ABCA5 (up to first 250kb)

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

    OMIM: 612503

    Human Genome Epidemiology Navigator: ABCA5 (2 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

    10/13 PubMed articles for ABCA5 gene (see all 13 ):
    (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: 23461 HGNC: 35 AceView: ABCA5andABCA10 Ensembl:ENSG00000154265 euGenes: HUgn23461
    ECgene: ABCA5 H-InvDB: ABCA5
    (According to HUGE)
    About This Section

    HUGE: KIAA1888
    (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

      --
    (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 ABCA5:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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     Predesigned and custom siRNAs for ABCA5 Antibodies for ABCA5
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for ABCA5 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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    Developed at the Crown Human Genome Center & Weizmann Institute of Science



    The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
    ABCA5 Gene at Home site.
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