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L2HGDH Gene

protein-coding   GIFtS: 60
GCID: GC14M050704

L-2-Hydroxyglutarate Dehydrogenase

(Previous name: chromosome 14 open reading frame 160)
(Previous symbol: C14orf160)
  See L2HGDH-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)
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Aliases
L-2-Hydroxyglutarate Dehydrogenase1 2     Alpha-Ketoglutarate Reductase2
C14orf1601 2 3 5     duranin2
2-Hydroxyglutarate Dehydrogenase1 2     L-2-Hydroxyglutarate Dehydrogenase, Mitochondrial2
EC 1.1.99.23 8     L-Alpha-Hydroxyglutarate Dehydrogenase2
Chromosome 14 Open Reading Frame 1601     Duranin3
Alpha-Hydroxyglutarate Oxidoreductase2     

External Ids:    HGNC: 204991   Entrez Gene: 799442   Ensembl: ENSG000000872997   OMIM: 6095845   UniProtKB: Q9H9P83   

Export aliases for L2HGDH gene to outside databases

Previous GC identifers: GC14M049775 GC14M030834


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for L2HGDH Gene:
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to
alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria,
a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. (provided
by RefSeq, Jul 2008)

GeneCards Summary for L2HGDH Gene:
L2HGDH (L-2-hydroxyglutarate dehydrogenase) is a protein-coding gene. Diseases associated with L2HGDH include 2-hydroxyglutaric aciduria, and l-2-hydroxyglutaric aciduria. GO annotations related to this gene include 2-hydroxyglutarate dehydrogenase activity.

Gene Wiki entry for L2HGDH 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the L2HGDH gene promoter:
         COUP-TF1   STAT5B   C/EBPbeta   COUP   Nkx2-5   HNF-4alpha2   HNF-4alpha1   PPAR-gamma1   COUP-TF   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidL2HGDH promoter sequence
   Search Chromatin IP Primers for L2HGDH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat L2HGDH


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

Entrez Gene cytogenetic band: 14q21.3   Ensembl cytogenetic band:  14q21.3   HGNC cytogenetic band: 14q22.1

L2HGDH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
L2HGDH gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M050704:  view genomic region     (about GC identifiers)

Start:
50,704,281 bp from pter      End:
50,779,266 bp from pter
Size:
74,986 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: L2HDH_HUMAN, Q9H9P8 (See protein sequence)
Recommended Name: L-2-hydroxyglutarate dehydrogenase, mitochondrial precursor  
Size: 463 amino acids; 50316 Da
Cofactor: FAD
Miscellaneous: Was named 'duranin' in honor of Marinus Duran, who first described L-2-hydroxyglutaric aciduria
Secondary accessions: Q9BRR1
Alternative splicing: 2 isoforms:  Q9H9P8-1   Q9H9P8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for L2HGDH: NX_Q9H9P8

Explore proteomics data for L2HGDH at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for L2HGDH (Q9H9P8) (see all 5)
     HNSGVIH  NIYPVPD  SLKAKLCV  FPFLGVHFT 


    See L2HGDH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079160.1  
    ENSEMBL proteins: 
     ENSP00000261699   ENSP00000267436   ENSP00000405559   ENSP00000450494   ENSP00000452483  
     ENSP00000451194  
    Reactome Protein details: Q9H9P8

    L2HGDH Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for L2HGDH

     
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    antibodies-online proteins for L2HGDH (4 products) 

     
    antibodies-online peptides for L2HGDH

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR006076 FAD-dep_OxRdtase

    Graphical View of Domain Structure for InterPro Entry Q9H9P8

    ProtoNet protein and cluster: Q9H9P8

    UniProtKB/Swiss-Prot: L2HDH_HUMAN, Q9H9P8
    Similarity: Belongs to the L2HGDH family


    Find genes that share domains with L2HGDH           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: L2HDH_HUMAN, Q9H9P8
    Catalytic activity: (S)-2-hydroxyglutarate + acceptor = 2-oxoglutarate + reduced acceptor
    Biophysicochemical properties: Kinetic parameters: KM=800 uM for L-2-hydroxyglutarate;

         Enzyme Number (IUBMB): EC 1.1.99.21 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity ----
    GO:00475452-hydroxyglutarate dehydrogenase activity IDA16005139
         
    Find genes that share ontologies with L2HGDH           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for L2HGDH

    miRNA
    Products:
        
    miRTarBase miRNAs that target L2HGDH:
    hsa-mir-192-5p (MIRT026454), hsa-mir-155-5p (MIRT020698), hsa-mir-20a-5p (MIRT050528), hsa-mir-215-5p (MIRT024689)

    Block miRNA regulation of human, mouse, rat L2HGDH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate L2HGDH (see all 59):
    hsa-miR-21* hsa-miR-607 hsa-let-7d hsa-miR-3616-5p hsa-miR-16-1* hsa-miR-3074-3p hsa-miR-578 hsa-miR-570
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Sino Biological Human cDNA Clone for L2HGDH
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat L2HGDH

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    L2HDH_HUMAN, Q9H9P8: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    cytoskeleton1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA16005139
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016021integral component of membrane IDA16005139
    GO:0031305integral component of mitochondrial inner membrane NAS16005139

    Find genes that share ontologies with L2HGDH           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for L2HGDH About    
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Interconversion of 2-oxoglutarate and 2-hydroxyglutarate0.00
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71
    3Metabolism
    Metabolism0.38
    4Butanoate metabolism
    Butanoate metabolism


    Find genes that share SuperPaths with L2HGDH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for L2HGDH
        Interconversion of 2-oxoglutarate and 2-hydroxyglutarate


    1 Kegg Pathway  (Kegg details for L2HGDH):
        Butanoate metabolism

        Pathway & Disease-focused RT2 Profiler PCR Array including L2HGDH: 
              Hepatotoxicity in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for L2HGDH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for L2HGDH (Q9H9P83 ENSP000002674364) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDA1Q9BW613I2D: score=1 
    ALDH4A1ENSP000002905974STRING: ENSP00000290597
    GAD1ENSP000003509284STRING: ENSP00000350928
    GAD2ENSP000002592714STRING: ENSP00000259271
    GLSENSP000003173794STRING: ENSP00000317379
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00061032-oxoglutarate metabolic process TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044267cellular protein metabolic process IDA16005139
    GO:0044281small molecule metabolic process TAS--
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with L2HGDH           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for L2HGDH (L2HDH)

    4 HMDB Compounds for L2HGDH    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    FADH1,5-dihydro-FAD (see all 19)1910-41-4--
    L-2-Hydroxyglutaric acid(S)-2-Hydroxyglutarate (see all 15)13095-48-2--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for L2HGDH gene: 
    NM_024884.2  

    Unigene Cluster for L2HGDH:

    L-2-hydroxyglutarate dehydrogenase
    Hs.256034  [show with all ESTs]
    Unigene Representative Sequence: NM_024884
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261699(uc010tqn.2) ENST00000267436(uc001wxu.3) ENST00000421284(uc010tqo.1)
    ENST00000555423 ENST00000555610 ENST00000554191 ENST00000556393
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate L2HGDH (see all 59):
    hsa-miR-21* hsa-miR-607 hsa-let-7d hsa-miR-3616-5p hsa-miR-16-1* hsa-miR-3074-3p hsa-miR-578 hsa-miR-570
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      QuantiTect SYBR Green Assays in human, mouse, rat L2HGDH
      QuantiFast Probe-based Assays in human, mouse, rat L2HGDH

    Additional mRNA sequence: 

    AK022680.1 AK292627.1 AK309294.1 AY757363.1 BC006117.1 

    5 DOTS entries:

    DT.40219587  DT.95265298  DT.40300804  DT.120765684  DT.91728482 

    Selected AceView cDNA sequences (see all 36):

    BE294650 AA583482 BM807046 AA555323 BF034867 BQ050387 BE883619 AU125485 
    BX280761 BM462381 BP431818 BI917205 BE878762 NM_024884 BU189807 BG421960 
    AA937054 BQ775984 BU601550 BE279451 BC006117 AK022680 AA629947 BG824975 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    L2HGDH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTCTATAT
    L2HGDH Expression
    About this image

    L2HGDH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    L2HGDH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.256034

    UniProtKB/Swiss-Prot: L2HDH_HUMAN, Q9H9P8
    Tissue specificity: Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in
    lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow

        Pathway & Disease-focused RT2 Profiler PCR Array including L2HGDH: 
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    In Situ
    Assay Products:
     

     
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for L2HGDH gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia L2hgdh1 , 5 L-2-hydroxyglutarate dehydrogenase1, 5 84.38(n)1
    82.51(a)1
      12 (28.94 cM)5
    2176661  NM_145443.21  NP_663418.11 
     696904365 
    chicken
    (Gallus gallus)
    Aves L2HGDH1 L-2-hydroxyglutarate dehydrogenase 72.38(n)
    73.94(a)
      423573  XM_421462.4  XP_421462.2 
    lizard
    (Anolis carolinensis)
    Reptilia L2HGDH6
    L-2-hydroxyglutarate dehydrogenase
    71(a)
    1 ↔ 1
    GL343627.1(174232-197491)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.300102 Xenopus laevis transcribed sequence with moderate similarity more 74.3(n)    BG345823.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570576872   -- 70.61(n)    57057687 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG106391 CG10639 56.92(n)
    57(a)
      35156  NM_136079.2  NP_609923.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y45G12B.31 Y45G12B.3 56.85(n)
    55.58(a)
      178733  NM_071329.3  NP_503730.1 


    ENSEMBL Gene Tree for L2HGDH (if available)
    TreeFam Gene Tree for L2HGDH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for L2HGDH (see all 1586)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0256874
    L-2-hydroxyglutaric aciduria (L2HGA)4--see VAR_0256872 E D mis40--------
    VAR_0256854
    L-2-hydroxyglutaric aciduria (L2HGA)4--see VAR_0256852 H R mis40--------
    VAR_0256864
    L-2-hydroxyglutaric aciduria (L2HGA)4--see VAR_0256862 H Y mis40--------
    VAR_0256824
    L-2-hydroxyglutaric aciduria (L2HGA)4--see VAR_0256822 G D mis40--------
    VAR_0256834
    L-2-hydroxyglutaric aciduria (L2HGA)4--see VAR_0256832 G R mis40--------
    VAR_0256904
    L-2-hydroxyglutaric aciduria (L2HGA)4--see VAR_0256902 H P mis40--------
    VAR_0256894
    L-2-hydroxyglutaric aciduria (L2HGA)4--see VAR_0256892 P L mis40--------
    VAR_0256844
    L-2-hydroxyglutaric aciduria (L2HGA)4--see VAR_0256842 K E mis40--------
    rs1868752181,2
    --31691691(+) AAAAAC/TAAACT 1 -- ds50010--------
    rs1156298861,2
    F--31691710(+) TAAAAG/CACATC 1 -- ds50011Minor allele frequency- C:0.04WA 118

    HapMap Linkage Disequilibrium report for L2HGDH (50704281 - 50779266 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for L2HGDH:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664640CNV Deletion23128226
    nsv832793CNV Loss17160897
    esv28926CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): L2HGDH
    Locus Specific Mutation Databases (LSDB): L2HGDH

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 609584   
    OMIM disorders: 236792  
    UniProtKB/Swiss-Prot: L2HDH_HUMAN, Q9H9P8
  • L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]: A rare autosomal recessive disorder clinically
    characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia,
    dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of
    L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for L2HGDH:    
    About MalaCards
    2-hydroxyglutaric aciduria    l-2-hydroxyglutaric aciduria    d-2-hydroxyglutaric aciduria

    2 diseases from the University of Copenhagen DISEASES database for L2HGDH:
    L-2-hydroxyglutaric aciduria     Cerebellar ataxia

    Find genes that share disorders with L2HGDH           About GenesLikeMe

    1 Novoseek inferred disease relationship for L2HGDH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metabolic disorder 57.6 1 17603759 (1)

    Genetic Association Database (GAD): L2HGDH
    Human Genome Epidemiology (HuGE) Navigator: L2HGDH (2 documents)

    Export disorders for L2HGDH 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)
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    PubMed articles for L2HGDH gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with L2HGDH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The gene mutated in L-2-hydroxyglutaric aciduria encodes L-2- hydroxyglutarate dehydrogenase. (PubMed id 16005139)1, 2, 3, 9 Rzem R.... Veiga-da-Cunha M. (Biochimie 2006)
    2. Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. (PubMed id 16134148)1, 2, 9 Vilarinho L....Jakobs C. (Hum. Mutat. 2005)
    3. L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. (PubMed id 15385440)1, 2, 9 Topcu M....Fischer J. (Hum. Mol. Genet. 2004)
    4. A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. (PubMed id 15548604)1, 2, 9 Rzem R....van Schaftingen E. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. (PubMed id 20052767)1, 9 Steenweg M.E....Salomons G.S. (Hum. Mutat. 2010)
    9. L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings. (PubMed id 18671189)1, 9 Haliloglu G....Topcu M. (Neuropediatrics 2008)
    10. Identification of novel L2HGDH gene mutations and update of the pathological spectrum. (PubMed id 19911013)1, 9 Vilarinho L....Azevedo L. (J. Hum. Genet. 2010)

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79944 HGNC: 20499 AceView: C14orf160 Ensembl:ENSG00000087299 euGenes: HUgn79944
    ECgene: L2HGDH Kegg: 79944 H-InvDB: L2HGDH

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for L2HGDH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=L2HGDH[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for L2HGDH gene:
    Search GeneIP for patents involving L2HGDH

    GeneCards and IP:
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