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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALDOB Gene

protein-coding   GIFtS: 70
GCID: GC09M104182

Aldolase B, Fructose-Bisphosphate

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Aldolase B, Fructose-Bisphosphate1 2     ALDO22
Liver-Type Aldolase2 3     Aldolase 22
ALDB2 3     Aldolase B, Fructose-Bisphosphatase2
EC 4.1.2.133 8     Fructose-Bisphosphate Aldolase B2

External Ids:    HGNC: 4171   Entrez Gene: 2292   Ensembl: ENSG000001368727   OMIM: 6127245   UniProtKB: P050623   

Export aliases for ALDOB gene to outside databases

Previous GC identifers: GC09M094983 GC09M095927 GC09M097641 GC09M099563 GC09M101263 GC09M103222 GC09M073782


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

Entrez Gene summary for ALDOB Gene:
Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible
conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates
have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences
indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping'
genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces
aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total
cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is
produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree
of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. (provided by
RefSeq, Dec 2008)

GeneCards Summary for ALDOB Gene: 
ALDOB (aldolase B, fructose-bisphosphate) is a protein-coding gene. Diseases associated with ALDOB include eumycotic mycetoma, and mycetoma, and among its related super-pathways are Glycolysis and gluconeogenesis (short map) and Fructose catabolism. GO annotations related to this gene include ATPase binding and identical protein binding. An important paralog of this gene is ALDOA.

Gene Wiki entry for ALDOB (Aldolase B) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALDOB gene promoter:
         AML1a   STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDOB promoter sequence
   Search SABiosciences Chromatin IP Primers for ALDOB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDOB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21.3-q22.2   Ensembl cytogenetic band:  9q31.1   HGNC cytogenetic band: 9q21.3-q22.2

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M104182:  view genomic region     (about GC identifiers)

Start:
104,182,842 bp from pter      End:
104,198,105 bp from pter
Size:
15,264 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ALDOB_HUMAN, P05062 (See protein sequence)
Recommended Name: Fructose-bisphosphate aldolase B  
Size: 364 amino acids; 39473 Da
Subunit: Homotetramer
Miscellaneous: In vertebrates, three forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle,
aldolase B in liver and aldolase C in brain
3 PDB 3D structures from and Proteopedia for ALDOB:
1QO5 (3D)        1XDL (3D)        1XDM (3D)    
Secondary accessions: Q13741 Q13742 Q5T7D6

Explore the universe of human proteins at neXtProt for ALDOB: NX_P05062

Explore proteomics data for ALDOB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05062

  • 4/24 DME Specific Peptides for ALDOB (P05062) (see all 24)
     GIVVGIK  PDGDHDL  LARYASI  ATLNLNA 

    ALDOB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALDOB Protein Expression
    REFSEQ proteins: NP_000026.2  
    ENSEMBL proteins: 
     ENSP00000363988  
    Reactome Protein details: P05062
    Human Recombinant Protein Products for ALDOB: 
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    Cloud-Clone Corp. Proteins for ALDOB 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005815microtubule organizing center IDA18000879
    GO:0005829cytosol TAS--
    GO:0034451centriolar satellite IDA18000879

    ALDOB for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR013785 Aldolase_TIM
     IPR000741 Aldolase_I

    Graphical View of Domain Structure for InterPro Entry P05062

    ProtoNet protein and cluster: P05062

    1 Blocks protein domain: IPB000741 Fructose-bisphosphate aldolase

    UniProtKB/Swiss-Prot: ALDOB_HUMAN, P05062
    Similarity: Belongs to the class I fructose-bisphosphate aldolase family


    ALDOB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALDOB_HUMAN, P05062
    Catalytic activity: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate
    Biophysicochemical properties: Kinetic parameters: KM=1.6 uM for fructose 1,6-bisphosphate; KM=2.3 mM for fructose
    1-phosphate;

         Genatlas biochemistry entry for ALDOB:
    aldolase B,fructose-bisphosphate,homotetramer,fructose metabolism,induced after feeding a carbohydrate diet,energy
    pathway,same affinity for F-1-P and F-1,6-P

         Enzyme Number (IUBMB): EC 4.1.2.131 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004332fructose-bisphosphate aldolase activity IDA10625657
    GO:0005515protein binding IPI18000879
    GO:0008092cytoskeletal protein binding IDA9244396
    GO:0042802identical protein binding IPI10625657
    GO:0051117ATPase binding IDA17576770
         
    ALDOB for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ALDOB:
     Decreased G3BP1 protein expres  Decreased melanin production  Decreased viability of wild-ty 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidALDOB 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ALDOB About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis (short map)
    Glycolysis and gluconeogenesis (short map)0.60
    Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46
    Glycolysis and Gluconeogenesis0.60
    Glycolysis / Gluconeogenesis0.46
    glycolysis0.50
    gluconeogenesis0.39
    2Fructose catabolism
    Fructose catabolism0.50
    sucrose degradation V (mammalian)0.33
    Polyol pathway0.50
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4Glucose metabolism
    Glucose metabolism0.50
    Glycolysis0.44
    Gluconeogenesis0.50
    5Carbon metabolism
    Carbon metabolism0.37
    Biosynthesis of amino acids0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ALDOB
        Glycolysis and gluconeogenesis (short map)


    1 GeneGo (Thomson Reuters) Pathway for ALDOB
        Glycolysis and gluconeogenesis (short map)

    5/7 BioSystems Pathways for ALDOB (see all 7)
        Polyol pathway
    Glycolysis and Gluconeogenesis
    sucrose degradation V (mammalian)
    gluconeogenesis
    glycolysis


    5/6        Reactome Pathways for ALDOB (see all 6)
        Gluconeogenesis
    Metabolism of carbohydrates
    Metabolism
    Glucose metabolism
    Fructose catabolism


    5/6         Kegg Pathways  (Kegg details for ALDOB) (see all 6):
        Glycolysis / Gluconeogenesis
    Pentose phosphate pathway
    Fructose and mannose metabolism
    Metabolic pathways
    Carbon metabolism

    UniProtKB/Swiss-Prot: ALDOB_HUMAN, P05062
    Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from
    D-glucose: step 4/4


    ALDOB for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALDOB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/56 Interacting proteins for ALDOB (P050621, 3 ENSP000003639884) via UniProtKB, MINT, STRING, and/or I2D (see all 56)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    BBS2Q9BXC91, 3, ENSP000002451574EBI-1045507,EBI-748297 I2D: score=1 STRING: ENSP00000245157
    BBS1Q8NFJ91, 3EBI-1045507,EBI-1805484 I2D: score=1 
    BBS4Q96RK41, 3, ENSP000002680574EBI-1045507,EBI-1805814 I2D: score=1 STRING: ENSP00000268057
    BBS7Q8IWZ61, 3, ENSP000002644994EBI-1045507,EBI-1806001 I2D: score=1 STRING: ENSP00000264499
    ATP6V1E1P365433, ENSP000002534134I2D: score=2 STRING: ENSP00000253413
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006000fructose metabolic process IMP3383242
    GO:0006001fructose catabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--

    ALDOB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALDOB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ALDOB

    6 HMDB Compounds for ALDOB    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-Erythrose 4-phosphateD-Erythrose 4-phosphate (see all 11)585-18-2--
    D-Glyceraldehyde 3-phosphate2-hydroxy-3-(phosphonooxy)-Propanal (see all 11)142-10-9--
    Dihydroxyacetone phosphate1,3-Dihydroxy-2-propanone phosphate (see all 17)57-04-5--
    Fructose 1,6-bisphosphateD-Fructose 1,6-biphosphate (see all 16)488-69-7--
    Fructose 1-phosphateD-fructose-1-P (see all 7)15978-08-2--
    ZincZinc (see all 2)7440-66-6--

    3 DrugBank Compounds for ALDOB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1,3-Dihydroxyacetonephosphate-- --target--17139284 17016423 10592235
    1,6-Fructose Diphosphate (Linear Form)-- --target--17139284 17016423 10592235
    3-Phosphoglycerol-- --target--17139284 17016423 10592235

    10/14 Novoseek inferred chemical compound relationships for ALDOB gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fructose 1-phosphate 93.1 7 2371280 (1), 2211642 (1), 1928090 (1), 7832803 (1) (see all 7)
    fructose-1,6-bisphosphate 85.2 6 2211642 (1), 7832803 (1), 11257525 (1), 1631039 (1) (see all 5)
    fructose 84.8 48 10970798 (2), 12417303 (2), 1856829 (2), 1772121 (2) (see all 36)
    phosphoenolpyruvate 58.5 5 8838317 (1), 15311963 (1), 19660180 (1), 7565696 (1)
    mannitol 33.2 1 2207353 (1)
    alpha-ketoglutarate 25.9 2 10944108 (1), 10967120 (1)
    glyceraldehyde 3-phosphate 17.4 1 16097891 (1)
    sucrose 6.13 2 2207353 (1), 7816629 (1)
    atp 3.5 1 16097891 (1)
    glucose 1.23 4 2341157 (1), 10944108 (1), 10967120 (1)

    Search CenterWatch for drugs/clinical trials and news about ALDOB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ALDOB gene: 
    NM_000035.3  

    Unigene Cluster for ALDOB:

    Aldolase B, fructose-bisphosphate
    Hs.530274  [show with all ESTs]
    Unigene Representative Sequence: AK128504
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374855(uc004bbk.2) ENST00000468981
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    Additional mRNA sequence: 

    AK026411.1 AK128504.1 AK290795.1 BC005314.1 BC029399.1 X00270.1 X01098.1 X02747.1 

    19 DOTS entries:

    DT.85101542  DT.92024710  DT.91778960  DT.100828753  DT.75154237  DT.91778889  DT.100029196  DT.100828761 
    DT.100828759  DT.404038  DT.95175038  DT.91778917  DT.95175048  DT.100828751  DT.95175043  DT.121150360 
    DT.95175040  DT.95175041  DT.40133653 

    24/295 AceView cDNA sequences (see all 295):

    H51076 CA866511 CR604271 AA377092 CB163242 AI061606 AA376987 BQ632154 
    BM352644 CR606411 CR617866 H51654 AA376821 BX464276 T73823 X02747 
    T40057 AV657366 AA255463 R08533 BQ631855 CB163916 AW043587 CB163649 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALDOB expression in normal human tissues (normalized intensities)      ALDOB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ALDOB Expression
    About this image


    ALDOB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 5 entries
             small intestine ; glandular cells   
             small intestine   
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Presumptive Podocytes Podocyte Layer
             Metanephros
             kidney ; cells in tubules   
             visceral organ/metanephros/calyx   
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Hepatocytes Liver Lobule
             Liver Lobule
             Human Hepatocyte (HH)   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles

    See ALDOB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDOB

    SOURCE GeneReport for Unigene cluster: Hs.530274
        SABiosciences Expression via Pathway-Focused PCR Array including ALDOB: 
              Glucose Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDOB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALDOB gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldob1 , 5 aldolase B, fructose-bisphosphate1, 5 90.75(n)1
    95.88(a)1
      4 (26.57 cM)5
    2301631  NM_144903.21  NP_659152.11 
     495359955 
    chicken
    (Gallus gallus)
    Aves ALDOB1 aldolase B, fructose-bisphosphate 75.55(n)
    80.77(a)
      427308  NM_001007977.1  NP_001007978.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALDOB6
    Fructose-bisphosphate aldolase
    82(a)
    1 ↔ 1
    2(58780455-58805593)
    zebrafish
    (Danio rerio)
    Actinopterygii aldob2 aldolase b, fructose-bisphosphate 75.82(n)   321664  AY394965.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ald3 glycolysis fructose-bisphosphate
    aldolase
    64(a)
    (best of 2)
      3 97A6   --
    worm
    (Caenorhabditis elegans)
    Secernentea F01F1.12a3 Fructose-biphosphate aldolase 59(a)
    (best of 3)
        --
    soybean
    (Glycine max)
    eudicotyledons BM177496.12   -- 77.18(n)    BM177496.1 
    rice
    (Oryza sativa)
    Liliopsida AK104719.12   -- 74.52(n)    AK104719.1 


    ENSEMBL Gene Tree for ALDOB (if available)
    TreeFam Gene Tree for ALDOB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALDOB gene
    ALDOA2  ALDOC2  
    2 SIMAP similar genes for ALDOB using alignment to 2 protein entries:     ALDOB_HUMAN (see all proteins):
    ALDOC    ALDOA

    ALDOB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/464 SNPs in ALDOB are shown (see all 464)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0005564
    Hereditary fructose intolerance (HFI)4--see VAR_0005562 R W mis40--------
    VAR_0582124
    Hereditary fructose intolerance (HFI)4--see VAR_0582122 L P mis40--------
    VAR_0208224
    Hereditary fructose intolerance (HFI)4--see VAR_0208222 I T mis40--------
    VAR_0005574
    Hereditary fructose intolerance (HFI)4--see VAR_0005572 N K mis40--------
    VAR_0208244
    Hereditary fructose intolerance (HFI)4--see VAR_0208242 P R mis40--------
    VAR_0582114
    Hereditary fructose intolerance (HFI)4--see VAR_0582112 C R mis40--------
    VAR_0005514
    Hereditary fructose intolerance (HFI)4--see VAR_0005512 C R mis40--------
    VAR_0208264
    Hereditary fructose intolerance (HFI)4--see VAR_0208262 V F mis40--------
    VAR_0005554
    Hereditary fructose intolerance (HFI)4--see VAR_0005552 L P mis40--------
    VAR_0005584
    Hereditary fructose intolerance (HFI)4--see VAR_0005582 A V mis40--------

    HapMap Linkage Disequilibrium report for ALDOB (104182842 - 104198105 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ALDOB:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv523287CNV Loss19592680
    nsv893626CNV Loss21882294


    Human Gene Mutation Database (HGMD): ALDOB

    Locus Specific Mutation Databases (LSDB): ALDOB
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ALDOB
    DNA2.0 Custom Variant and Variant Library Synthesis for ALDOB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612724   
    OMIM disorders: 229600  
    UniProtKB/Swiss-Prot: ALDOB_HUMAN, P05062
  • Hereditary fructose intolerance (HFI) [MIM:229600]: Autosomal recessive disease that results in an
    inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery;
    however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk
    of death the remainder of life. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 18 diseases for ALDOB:    About MalaCards
    eumycotic mycetoma    mycetoma    hereditary fructose intolerance syndrome    autosomal recessive disease
    maturity-onset diabetes of the young    metabolic acidosis    hypoglycemia    hepatocellular carcinoma
    ulcerative colitis    crohn's disease    hepatitis c    hepatitis
    renal cell carcinoma    diabetes mellitus    hepatitis b    lung cancer
    pancreatitis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for ALDOB:
    Eumycotic mycetoma

    ALDOB for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for ALDOB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hereditary fructose intolerance 98.2 37 12417303 (2), 1856829 (2), 2349937 (1), 8438046 (1) (see all 33)
    hypoglycemia 35.1 2 2207353 (1), 12638940 (1)
    hepatocellular carcinoma 21.5 4 14966907 (2), 18357395 (1)
    genetic disorder 17.7 1 11679716 (1)
    tumor liver 14.5 1 14966907 (1)
    hepatitis 0 1 16115720 (1)
    tumors 0 3 18357395 (2), 1856954 (1)
    carcinoma renal cell 0 1 2183586 (1)

    Genatlas disease: ALDOB
    fructose intolerance,hereditary,characterized by vomiting,nausea,sweating associated with hypoglycemia and
    metabolic acidosis after exposure ef dietary fructose after weaning,leading to chronic toxicity and cirrhosis of
    liver in case of persistent intake

    Genetic Association Database (GAD): ALDOB
    Human Genome Epidemiology (HuGE) Navigator: ALDOB (4 documents)

    Export disorders for ALDOB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ALDOB gene, integrated from 9 sources (see all 140) (see top 10):
    (articles sorted by number of sources associating them with ALDOB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. (PubMed id 15880727)1, 2, 9 Santer R.... Schneppenheim R. (2005)
    2. Increased prevalence of mutant null alleles that caus e hereditary fructose intolerance in the American population. (PubMed id 20033295)1, 4, 9 Coffee E.M....Tolan D.R. (2010)
    3. Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. (PubMed id 10970798)1, 2, 9 Santamaria R.... Salvatore F. (2000)
    4. Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. (PubMed id 16406649)1, 4, 9 Gruchota J....Pl/oski R. (2006)
    5. Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. (PubMed id 15532022)1, 2, 9 Esposito G.... Salvatore F. (2004)
    6. The structure of human liver fructose-1,6-bisphosphate aldolase. (PubMed id 11679716)1, 2, 9 Dalby A.R.... Littlechild J.A. (2001)
    7. A partially active mutant aldolase B from a patient with hereditary fructose intolerance. (PubMed id 8299883)1, 2, 9 Brooks C.C. and Tolan D.R. (1994)
    8. A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. (PubMed id 2336380)1, 2, 9 Cross N.C.P.... Cox T.M. (1990)
    9. Molecular analysis of aldolase B genes in hereditary fructose intolerance. (PubMed id 1967768)1, 2, 9 Cross N.C.P.... Cox T.M. (1990)
    10. Screening for hereditary fructose intolerance mutations by reverse dot-blot. (PubMed id 10024431)1, 2, 9 Lau J. and Tolan D.R. (1999)
    11. Genome-wide association study identifies loci influenc ing concentrations of liver enzymes in plasma. (PubMed id 22001757)1, 4 Chambers J.C....Kooner J.S. (2011)
    12. Secreted protein acidic and rich in cysteine (SPARC) gene polymorphism association with hepatocellular carcinoma in Italian patients . (PubMed id 19817957)1, 4 Segat L....Crovella S. (2009)
    13. Genetic variations in humans associated with differences in the course of hepatitis C. (PubMed id 15063762)1, 4 Saito T....Kawata S. (2004)
    14. The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance. (PubMed id 12464284)1, 4 Malay A.D....Tolan D.R. (2002)
    15. Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. (PubMed id 12205126)1, 2 Sanchez-Gutierrez J.C.... Feliu J.E. (2002)
    16. Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. (PubMed id 8535439)1, 2 Tolan D.R. (1995)
    17. Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. (PubMed id 7717389)1, 2 Ali M. and Cox T.M. (1995)
    18. Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. (PubMed id 8162030)1, 2 Ali M.... Cox T.M. (1994)
    19. Construction and expression of human aldolase A and B expression plasmids in Escherichia coli host. (PubMed id 2649152)1, 2 Sakakibara M.... Hori K. (1989)
    20. Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. (PubMed id 3383242)1, 2 Cross N.C.P.... Cox T.M. (1988)
    21. Human aldolase B gene: characterization of the genomic aldolase B gene and analysis of sequences required for multiple polyadenylations. (PubMed id 2830249)1, 2 Mukai T.... Hori K. (1987)
    22. Characterization of the human aldolase B gene. (PubMed id 3016456)1, 2 Tolan D.R. and Penhoet E.E. (1986)
    23. Human aldolase isozyme gene: the structure of multispecies aldolase B mRNAs. (PubMed id 2410860)1, 2 Sakakibara M.... Hori K. (1985)
    24. Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones. (PubMed id 6585824)1, 2 Rottmann W.H.... Penhoet E.E. (1984)
    25. Isolation and nucleotide sequence of a full-length cDNA coding for aldolase B from human liver. (PubMed id 6548561)1, 2 Paolella G.... Salvatore F. (1984)
    26. Nucleotide sequence of a cDNA clone for human aldolase B. (PubMed id 6689266)1, 2 Besmond C.... Kahn A. (1983)
    27. Starvation-induced lysosomal degradation of aldolase B requires glutamine 111 in a signal sequence for chaperone-mediated transport. (PubMed id 11241348)1, 9 Susan P.P. and Dunn W.A. (2001)
    28. Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance. (PubMed id 17955389)1, 9 Chi Z.N....Ning G. (2007)
    29. Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance. (PubMed id 17292585)1, 9 Kriegshauser G....Oberkanins C. (2007)
    30. Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. (PubMed id 12417303)1, 9 Esposito G....Salvatore F. (2002)
    31. Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. (PubMed id 17457694)1, 9 Adamowicz M....Pronicka E. (2007)
    32. Genes encoding Pir51, Beclin 1, RbAp48 and aldolase b are up or down-regulated in human primary hepatocellular carcinoma. (PubMed id 14966907)1, 9 Song H....Zhao M.J. (2004)
    33. Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis. (PubMed id 10625657)1, 9 Rellos P....Cox T.M. (2000)
    34. Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. (PubMed id 18541450)1, 9 Davit-Spraul A....Baussan C. (2008)
    35. The biochemical basis of hereditary fructose intolera nce. (PubMed id 20162364)1, 9 Bouteldja N. and Timson D.J. (2010)
    36. Large-scale search of SNPs for type 2 DM susceptibility genes in a Japanese population. (PubMed id 12646233)4, 9 Daimon M....Kato T. (2003)
    37. Mode of interactions of human aldolase isozymes with cytoskeletons. (PubMed id 9244396)1, 9 Kusakabe T....Hori K. (1997)
    38. Aldolase B knockdown prevents high glucose-induced met hylglyoxal overproduction and cellular dysfunction in endothelial cells. (PubMed id 22911800)1 Liu J....Wu L. (2012)
    39. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    40. Stabilization of the predominant disease-causing aldo lase variant (A149P) with zwitterionic osmolytes. (PubMed id 21166391)1 Stopa J.D....Tolan D.R. (2011)
    41. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    42. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    43. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    44. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    45. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    46. Mutations in the promoter region of the aldolase B ge ne that cause hereditary fructose intolerance. (PubMed id 20882353)1 Coffee E.M. and Tolan D.R. (2010)
    47. Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletio n. (PubMed id 20848650)1 Esposito G....Salvatore F. (2010)
    48. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    49. Five mucosal transcripts of interest in ulcerative colitis identified by quantitative real-time PCR: a prospective study. (PubMed id 18700007)1 Eriksson A....Lange S. (2008)
    50. Novel interaction partners of Bardet-Biedl syndrome proteins. (PubMed id 18000879)1 Oeffner F....Grzeschik K.H. (2008)
    51. Physical interaction between aldolase and vacuolar H+-ATPase is essential for the assembly and activity of the proton pump. (PubMed id 17576770)1 Lu M....Gluck S.L. (2007)
    52. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (2006)
    53. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
    54. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (2004)
    55. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    56. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. (PubMed id 11752456)1 Xu X.R.... Han Z.G. (2001)
    57. Interaction between aldolase and vacuolar H+-ATPase: evidence for direct coupling of glycolysis to the ATP-hydrolyzing proton pump. (PubMed id 11399750)1 Lu M.... Gluck S.L. (2001)
    58. The Protein Data Bank. (PubMed id 10592235)7 Berman H.M....Bourne P.E. (2000)
    59. The structural gene for aldolase B (ALDB) maps to 9q13----32. (PubMed id 3000275)1 Henry I....Junien C. (1985)
    60. Identification of conserved promoter elements for aldB and isozyme specific residues in aldolase B. (PubMed id 10327593)9 Berardini T.Z....Tolan D.R. (1999)
    61. Aberrant expression of the glycolytic enzymes aldolase B and type II hexokinase in hepatocellular carcinoma are predictive markers for advanced stage, early recurrence and poor prognosis. (PubMed id 18357395)9 Peng S.Y....Hsu H.C. (2008)
    62. Chromosomal and regional localization of the loci for IGKC, IGGC, ALDB, HOXB, GPT, and PRNP in the American mink (Mustela vison): comparisons with human and mouse. (PubMed id 8563168)9 Khlebodarova T.M....Brusgaard K. (1995)
    63. Initiation zone of DNA replication at the aldolase B locus encompasses transcription promoter region. (PubMed id 7816629)9 Zhao Y....Tsutsumi K. (1994)
    64. Human aldolase B: liver-specific properties of the is ozyme depend on type B isozyme group-specific sequences. (PubMed id 7700871)9 Kusakabe T....Hori K. (1994)
    65. Detection of autoantibody to aldolase B in sera from patients with troglitazone-induced liver dysfunction. (PubMed id 16115720)9 Maniratanachote R....Yokoi T. (2005)
    66. Alteration of substrate specificity by a naturally-oc curring aldolase B mutation (Ala337-->Val) in fructose intolerance. (PubMed id 10229688)9 Rellos P....Cox T.M. (1999)
    67. [Immunoreactivities and messenger RNA expression of aldolase A and B in human hepatoma cell lines] (PubMed id 7868061)9 Kimura T. (1994)
    68. Comparative FISH mapping on Z chromosomes of chicken and Japanese quail. (PubMed id 10640806)9 Suzuki T....Matsuda Y. (1999)
    69. Characterization of recombinant human aldolase B and purification by metal chelate chromatography. (PubMed id 7832803)9 Doyle S.A. and Tolan D.R. (1995)
    70. Alteration of aldolase isozymes in serum and tissues of patients with cancer and other diseases. (PubMed id 8046542)9 Asaka M....Alpert E. (1994)
    71. Competition between transcription factors HNF1 and HNF3, and alternative cell-specific activation by DBP and C/EBP contribute to the regulation of the liver-specific aldolase B promoter. (PubMed id 8383844)9 Gregori C....Pichard A.L. (1993)
    72. Studies on chimeric fusion proteins of human aldolase isozymes A and B. (PubMed id 1631039)9 Takasaki Y. and Hori K. (1992)
    73. Aldolase B mutations in Italian families affected by hereditary fructose intolerance. (PubMed id 1856829)9 Sebastio G....Cox T.M. (1991)
    74. Isolation and characterization of an aldehyde dehydrogenase encoded by the aldB gene of Escherichia coli. (PubMed id 15659684)9 Ho K.K. and Weiner H. (2005)
    75. Functional domains involved in the interaction between Orc1 and transcriptional repressor AlF-C that bind to an origin/promoter of the rat aldolase B gene. (PubMed id 12466545)9 Saitoh Y....Tsutsumi K. (2002)
    76. PCR primers for an aldolase-B intron in acanthopterygian fishes. (PubMed id 11722793)9 Quattro J.M....Oswald K.J. (2001)
    77. Cloning and characterization of a full-length cDNA co ding for ovine aldolase B from fetal mesonephros. (PubMed id 8086469)9 Gianquinto L....Cotinot C. (1994)
    78. Aldolase B and fructose intolerance. (PubMed id 8299892)9 Cox T.M. (1994)
    79. An immunochemical and immunohistochemical study of aldolase isozymes in renal cell carcinoma. (PubMed id 1856954)9 Zhu Y.Y....Kato K. (1991)
    80. Case report: heterogeneity of aldolase B in hereditary fructose intolerance. (PubMed id 1772121)9 Kaiser U.B. and Hegele R.A. (1991)
    81. Structural studies on aldolase isozymes through protein engineering. (PubMed id 2203067)9 Takasaki Y....Hori K. (1990)
    82. Adult hereditary fructose intolerance. (PubMed id 19452588)9 Yasawy M.I....Schwend M. (2009)
    83. Sequential hepatogenic transdifferentiation of adipos e tissue-derived stem cells: relevance of different extracellular signaling mol ecules, transcription factors involved, and expression of new key marker genes. (PubMed id 19660180)9 Bonora-Centelles A....GA^mez-LechA^n M.J. (2009)
    84. Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency. (PubMed id 18775706)9 Kardon T....Schaftingen E.V. (2008)
    85. Aldolase B mutations in Turkish families from central Anatolia. (PubMed id 17375533)9 Karabulut H.G....BAPkesoy I. (2006)
    86. Proteomic profiling of proteins decreased in hepatocellular carcinoma from patients infected with hepatitis C virus. (PubMed id 15221772)9 Yokoyama Y....Okita K. (2004)
    87. Underexpression of mRNA in human hepatocellular carcinoma focusing on eight loci. (PubMed id 12143053)9 Kinoshita M. and Miyata M. (2002)
    88. Hereditary fructose intolerance. (PubMed id 9610797)9 Ali M....Cox T.M. (1998)
    89. Neonatal screening for hereditary fructose intoleranc e: frequency of the most common mutant aldolase B allele (A149P) in the British population. (PubMed id 8933337)9 James C.L....Cox T.M. (1996)
    90. A newly identified aldolase B splicing mutation (G--& gt;C, 5' intron 5) in hereditary fructose intolerance from New Zealand. (PubMed id 8829634)9 Ali M....Cox T.M. (1996)
    91. Metabolic operons in Lactococci. (PubMed id 8586214)9 Renault P....Ehrlich S.D. (1995)
    92. Cloning and characterisation of a fish aldolase B gen e. (PubMed id 7632737)9 Llewellyn L....Power D.M. (1995)
    93. Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. (PubMed id 8071980)9 Ali M....Cox T.M. (1994)
    94. Assignment of 12 loci to rat chromosome 5: evidence that this chromosome is homologous to mouse chromosome 4 and to human chromosomes 9 and 1 (1p arm). (PubMed id 2341157)9 Szpirer C....Levan G. (1990)
    95. Hereditary fructose intolerance. (PubMed id 2207353)9 Cox T.M. (1990)
    96. Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene. (PubMed id 2203259)9 Kajihara S....Hori K. (1990)
    97. Serum aldolase isozyme levels in patients with cerebrovascular diseases. (PubMed id 2240017)9 Asaka M....Alpert E. (1990)
    98. HNF4alpha and HNF1alpha dysfunction as a molecular rational for cyclosporine induced posttransplantation diabetes mellitus. (PubMed id 19252740)9 Borlak J. and Niehof M. (2009)
    99. Long-term functional stability of human HepaRG hepatocytes and use for chronic toxicity and genotoxicity studies. (PubMed id 18347083)9 Josse R....Guillouzo A. (2008)
    100. Different genotypes in a large Italian family with re current hereditary fructose intolerance. (PubMed id 18188031)9 Caciotti A....Morrone A. (2008)
    101. Real-time PCR quantification analysis of five mucosal transcripts in patients with Crohn's disease. (PubMed id 18334872)9 Eriksson A....Lange S. (2008)
    102. Thermodynamic analysis shows conformational coupling and dynamics confer substrate specificity in fructose-1,6-bisphosphate aldolase . (PubMed id 17935305)9 Pezza J.A....Tolan D.R. (2007)
    103. The human hepatoma HepaRG cells: a highly differentiated model for studies of liver metabolism and toxicity of xenobiotics. (PubMed id 17241619)9 Guillouzo A....Guguen-Guillouzo C. (2007)
    104. [Screening proteins in hepatocytes interacting with the middle surface protein of hepatitis B virus using the yeast-two hybrid technique] (PubMed id 17362635)9 Li Z.Q....Cheng J. (2007)
    105. Structure of the thermolabile mutant aldolase B, A149 P: molecular basis of hereditary fructose intolerance. (PubMed id 15733923)9 Malay A.D....Tolan D.R. (2005)
    106. Current progress in proteomic study of hepatitis C virus-related human hepatocellular carcinoma. (PubMed id 16097891)9 Kuramitsu Y. and Nakamura K. (2005)
    107. Structure of human brain fructose 1,6-(bis)phosphate aldolase: linking isozyme structure with function. (PubMed id 15537755)9 Arakaki T.L.... Allen K.N. (2004)
    108. Development of rainbow trout hepatoma cell lines: effect of pro-IGF-I Ea4-peptide on morphological changes and anchorage-independent growth. (PubMed id 15311963)9 Chen M.J....Chen T.T. (2004)
    109. Spatial clustering of isozyme-specific residues reveals unlikely determinants of isozyme specificity in fructose-1,6-bisphosphate aldolase. (PubMed id 12611890)9 Pezza J.A....Tolan D.R. (2003)
    110. Differential gene expression in rats following subacu te exposure to the anticonvulsant sodium valproate. (PubMed id 12387752)9 Plant N....Lord P. (2002)
    111. Simple method for detection of mutations causing hereditary fructose intolerance. (PubMed id 12638940)9 Kullberg-Lindh C....Lindh M. (2002)
    112. Structural and immunological similarities between high molecular weight zinc ion-dependent p-nitrophenylphosphatase and fructose-1,6-bisphosphate aldolase from bovine liver. (PubMed id 11257525)9 Pellegrini M....Panara F. (2001)
    113. Hepatocyte nuclear factor-4alpha involved in type 1 maturity-onset diabetes of the young is a novel target of AMP-activated protein kinase. (PubMed id 11423471)9 Leclerc I....Viollet B. (2001)
    114. Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case. (PubMed id 11021009)9 Yang T.Y....Chang M.H. (2000)
    115. Molecular targets of a human HNF1 alpha mutation responsible for pancreatic beta-cell dysfunction. (PubMed id 10944108)9 Wang H....Wollheim C.B. (2000)
    116. Hepatocyte nuclear factor 4alpha regulates the expression of pancreatic beta -cell genes implicated in glucose metabolism and nutrient-induced insulin secretion. (PubMed id 10967120)9 Wang H....Wollheim C.B. (2000)
    117. Muscle aldolase decreases muscle FBPase sensitivity toward AMP inhibition. (PubMed id 10964712)9 Rakus D. and Dzugaj A. (2000)
    118. Molecular cloning and characterization of a translational inhibitory protein that binds to coding sequences of human acid beta-glucosidase and other mRNAs. (PubMed id 10607473)9 Xu Y.-H. and Grabowski G.A. (1999)
    119. [Hereditary fructose intolerance] (PubMed id 10192989)9 Lopes A.I....Leite M. (1998)
    120. Characterization of the aldolase B intronic enhancer. (PubMed id 9737987)9 Gregori C....Pichard A.L. (1998)
    121. Role of isozyme group-specific sequence 4 in the isoz yme-specific properties of human aldolase C. (PubMed id 9854814)9 Kusakabe T....Hori K. (1998)
    122. Genetic variability in white leghorns revealed by chicken liver expressed sequence tags. (PubMed id 9469763)9 Li S....Kuhnlein U. (1998)
    123. Extinction of albumin gene expression in a panel of human chromosome 2 microcell hybrids. (PubMed id 8838317)9 Cerosaletti K.M. and Fournier R.E. (1996)
    124. Overproduction of a truncated hepatocyte nuclear factor 3 protein inhibits expression of liver-specific genes in hepatoma cells. (PubMed id 7565696)9 Vallet V....Kahn A. (1995)
    125. Genetic analysis of a transcriptional activation pathway by using hepatoma cell variants. (PubMed id 7935424)9 Bulla G.A. and Fournier R.E. (1994)
    126. Human aldolase C: characterization of the recombinant enzyme expressed in Escherichia coli. (PubMed id 7982900)9 Kusakabe T....Hori K. (1994)
    127. [Congenital fructose intolerance. New molecular aspec ts] (PubMed id 7809888)9 Larsen K....Ogreid D. (1994)
    128. Inborn errors of fructose metabolism. (PubMed id 8213611)9 Hommes F.A. (1993)
    129. Linkage mapping of the Aldo-2, Pax-5, Ambp, and D4h9S3E loci on mouse chromosome 4 in the region of homology with human chromosome 9. (PubMed id 7508415)9 Pilz A....Abbott C. (1993)
    130. Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. (PubMed id 8096362)9 Brooks C.C. and Tolan D.R. (1993)
    131. DNA diagnosis of fatal fructose intolerance from arch ival tissue. (PubMed id 8438046)9 Ali M....Cox T.M. (1993)
    132. Differential usage of the carboxyl-terminal region among aldolase isozymes. (PubMed id 8496148)9 Berthiaume L....Sygusch J. (1993)
    133. Immunochemical and immunohistochemical studies on three aldolase isozymes in human lung cancer. (PubMed id 2004336)9 Ojika T....Kato K. (1991)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 229 HGNC: 417 AceView: ALDOB Ensembl:ENSG00000136872 euGenes: HUgn229
    ECgene: ALDOB Kegg: 229 H-InvDB: ALDOB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ALDOB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ALDOB Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDOB

    (Patent information from GeneIP,
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    Patent Information for ALDOB gene:
    Search GeneIP for patents involving ALDOB

    Licensable Technologies for ALDOB gene:
    Weizmann Institute:Diagnosis and Treatment of Alzheimer Directed Against Aldolase
    GeneCards and IP:
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