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

ALDOB Gene

protein-coding   GIFtS: 67
GCID: GC09M104182

aldolase B, fructose-bisphosphate
 Explore 19 diseases affiliated with
ALDOB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ALDOB    

Aliases
for ALDOB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for ALDOB gene

(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:
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)

Gene Wiki entry for ALDOB (Aldolase B)


Genomic Views
for ALDOB 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALDOB gene promoter:
         AML1a   STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ALDOB 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

Proteins
for ALDOB gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000026.2  
    ENSEMBL proteins: 
     ENSP00000363988   ENSP00000363986  
    Reactome Protein details: P05062
    Human Recombinant Protein Products: 
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    Uscn Proteins for ALDOB

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005764lysosome ----
    GO:0005792microsome ----
    GO:0005815microtubule organizing center IDA18000879


    ALDOB for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ALDOB

    Protein Domains /
    Families
    for ALDOB gene

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

    2 InterPro domains/families:
     IPR013785 Aldolase_TIM
     IPR000741 Aldolase_I

    Graphical View of Domain Structure for InterPro Entry P05062

    ProtoNet protein and cluster: P05062

    1 Blocks protein family: IPB000741 Fructose-bisphosphate aldolase

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


    Function
    for ALDOB gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate ALDOB:
    hsa-miR-29a* hsa-miR-2278 hsa-miR-32* hsa-miR-1301 hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmid: ALDOB 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: ALDOB
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004332fructose-bisphosphate aldolase activity IDA17576770
    GO:0005515protein binding IPI18000879
    GO:0008092cytoskeletal protein binding IDA9244396
    GO:0031210phosphatidylcholine binding ----
    GO:0042802identical protein binding IPI10625657


    ALDOB for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for ALDOB gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glycolysis and gluconeogenesis (short map)
    		Glycolysis and gluconeogenesis (short map)1.00
    		Glycolysis and Gluconeogenesis0.60
    		Glycolysis and gluconeogenesis (short map)0.97
    		Glycolysis / Gluconeogenesis0.41
    2Glucose metabolism
    		Glucose metabolism1.00
    		Glycolysis0.44
    		Gluconeogenesis0.50
    3Fructose catabolism
    		Fructose catabolism1.00
    		sucrose degradation V (mammalian)0.33
    		Polyol pathway0.50
    4Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    5gluconeogenesis I
    		gluconeogenesis I1.00
    		glycolysis I0.58

    Pathway sources
    See GeneCards unified pathways
    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)

    5/6 BioSystems Pathways for ALDOB (see all 6) 
        Polyol pathway
    sucrose degradation V (mammalian)
    Glycolysis and Gluconeogenesis
    FOXA2 and FOXA3 transcription factor networks
    glycolysis I

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


    4         Kegg Pathways  (Kegg details for ALDOB):
        Glycolysis / Gluconeogenesis
    Pentose phosphate pathway
    Fructose and mannose metabolism
    Metabolic pathways

    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): 5/28 biological process terms (GO ID links to tree view) (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development ----
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006000fructose metabolic process IMP3383242
    GO:0006001fructose catabolic process TAS--
    GO:0006006glucose metabolic process TAS--


    ALDOB for ontologies           About GeneDecksing



    Drugs & Compounds
    for ALDOB gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for ALDOB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374855(uc004bbk.2) ENST00000374853 ENST00000468981

    miRNA
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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):

    CB163695 H51654 CR613920 BX406719 CA866780 AI580305 CA866511 CB163242 
    CR606411 AI061606 H72200 BM352265 T40057 BX464276 CR617866 AA377092 
    AA029579 BX448550 CR604271 AL532528 AV657366 CR605801 AA377181 H51076 

    GeneLoc Exon Structure


    Expression
    for ALDOB gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ALDOB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for ALDOB gene

    (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 8/28 species (see all 28)    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
    		 --
    		 82(a)
    		 1 ↔ 1
    		 2(58782580-58792268)
    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)    		     --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G529306
    AT2G364606
    (see all 8)    		 fructose-bisphosphate aldolase, class I
    (see all 8)    		 57(a)
    57(a)
    (see all 8)    		 many ↔ many
    many ↔ many
    (see all 8)    		 3(19626748-19629073)
    2(15296701-15298514)
    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
    for ALDOB gene

    (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     Q5T7D5_HUMAN(see first protein):
    ALDOC    ALDOA

    ALDOB for paralogs           About GeneDecksing



    Genomic Variants
    for ALDOB gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/371 NCBI SNPs in ALDOB are shown (see all 371)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1182044291,2
    		Cpathogenic104967850(-) AGTTCC/TGAGAA 2 R * stg11Minor allele frequency- T:0.00NA 4552
    rs18005461,2
    		C,F,pathogenic104970177(-) GGCGTG/CCTGTG 2 /P /A mis14Minor allele frequency- C:0.00NA EU 5879
    rs769172431,2
    		C,F,pathogenic104970253(+) TGCTGG/TCGTAG 2 D A mis12Minor allele frequency- T:0.00NA EU 5873
    rs783409511,2
    		Cpathogenic104975848(-) GCTAAC/GTGCCA 2 N K mis11Minor allele frequency- G:0.00EU 1321
    rs772452281,2
    		--73782046(+) TGTATA/GACTGT 1 -- ds50010--------
    rs412960511,2
    		--73782423(+) TTCCTG/AACTCT 1 -- ut311Minor allele frequency- A:0.01NA 120
    rs123442771,2
    		C,H--73782497(+) TTTTAT/GATTGT 1 -- ut31 ese34Minor allele frequency- G:0.00NS EA 420
    rs177728391,2
    		C,F,H,--73782645(+) CTGGAC/TGTGCA 1 -- ut31 ese39Minor allele frequency- T:0.06NA NS EA WA 790
    rs123475191,2
    		C,H,--73782831(+) ATTTAG/TATTGG 1 -- ut314Minor allele frequency- T:0.00NS EA 420
    rs412960491,2
    		F,--73782930(+) TTTAAT/CTGAGC 1 -- ut312Minor allele frequency- C:0.09WA NA 238

    HapMap Linkage Disequilibrium report for ALDOB (104182842 - 104198105 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ALDOB: --
    Human Gene Mutation Database (HGMD): ALDOB

    Locus Specific Mutation Databases (LSDB): ALDOB

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALDOB
    DNA2.0 Custom Variant and Variant Library Synthesis for ALDOB

    Disorders / Diseases
    for ALDOB gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ALDOB for disorders           About GeneDecksing

    OMIM gene information: 612724   
    OMIM disorders: 229600  
    UniProtKB/Swiss-Prot: ALDOB_HUMAN, P05062
  • Defects in ALDOB are the cause of hereditary fructose intolerance (HFI) [MIM:229600]. HFI is an 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

    19 diseases for ALDOB:    About MalaCards
    fructose intolerance    eumycotic mycetoma    aldolase a deficiency    bardet-biedl syndrome
    maturity-onset diabetes of the young    autosomal recessive disease    mycetoma    ulcerative colitis
    renal cell carcinoma    diabetes mellitus    hepatocellular carcinoma    hepatitis c
    crohn's disease    hepatitis b    hepatitis    carcinoma
    lung cancer    pancreatitis    malaria

    8 Novoseek 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

    Publications
    for ALDOB gene

    (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 136):
    (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. 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)
    3. 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)
    4. The structure of human liver fructose-1,6-bisphosphate aldolase. (PubMed id 11679716)1, 2, 9 Dalby A.R.... Littlechild J.A. (2001)
    5. 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)
    6. 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)
    7. Molecular analysis of aldolase B genes in hereditary fructose intolerance. (PubMed id 1967768)1, 2, 9 Cross N.C.P.... Cox T.M. (1990)
    8. Screening for hereditary fructose intolerance mutations by reverse dot-blot. (PubMed id 10024431)1, 2, 9 Lau J. and Tolan D.R. (1999)
    9. Genetic variations in humans associated with differences in the course of hepatitis C. (PubMed id 15063762)1, 4 Saito T....Kawata S. (2004)
    10. 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)

    External Searches for ALDOB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ALDOB gene

    (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

    Other Databases showing ALDOB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ALDOB gene

    (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

    Intellectual Property
    for ALDOB gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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