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

ETFDH Gene

protein-coding   GIFtS: 62
GCID: GC04P159593

electron-transferring-flavoprotein dehydrogenase

 Explore 12 diseases affiliated with
ETFDH via our new
 Human Malady Compendium 
Biological research products
for ETFDH
    

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

Aliases
Electron-Transferring-Flavoprotein Dehydrogenase1 2 3     EC 1.5.5.13 8
ETFQO1 2     MADD2 5
ETF-QO2 3     Electron Transfer Flavoprotein Ubiquinone Oxidoreductase2
ETF Dehydrogenase2 3     Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase, Mitochondrial2
ETF-Ubiquinone Oxidoreductase2 3     

External Ids:    HGNC: 34831   Entrez Gene: 21102   Ensembl: ENSG000001715037   OMIM: 2316755   UniProtKB: Q161343   

Export aliases for ETFDH gene to outside databases

Previous GC identifers: GC04P160443 GC04P160022 GC04P160171 GC04P160145 GC04P159951 GC04P159812 GC04P155343


(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 ETFDH:
Electron-transferring-flavoprotein dehydrogenase in the inner mitochondrial membrane accepts electrons from
electron-transfer flavoprotein which is located in the mitochondrial matrix and reduces ubiquinone in the
mitochondrial membrane. The protein is synthesized as a 67-kDa precursor which is targeted to mitochondria and
processed in a single step to a 64-kDa mature form located in the mitochondrial membrane. Deficiency in
electron-transferring-flavoprotein dehydrogenase have been demonstrated in some patients with type II
glutaricacidemia. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ETFD_HUMAN, Q16134
Function: Accepts electrons from ETF and reduces ubiquinone

Gene Wiki entry for ETFDH


(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_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ETFDH gene promoter:
         Nkx3-1   Nkx3-1 v4   SREBP-1c   Nkx3-1 v1   Gfi-1   GATA-2   SREBP-1b   Nkx3-1 v2   SREBP-1a   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidETFDH promoter sequence
   Search SABiosciences Chromatin IP Primers for ETFDH

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


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

Entrez Gene cytogenetic band: 4q32-q35   Ensembl cytogenetic band:  4q32.1   HGNC cytogenetic band: 4q32-q35

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P159593:  view genomic region     (about GC identifiers)

Start:
159,593,277 bp from pter      End:
159,630,775 bp from pter
Size:
37,499 bases      Orientation:
plus strand

(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: ETFD_HUMAN, Q16134 (See protein sequence)
Recommended Name: Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial precursor  
Size: 617 amino acids; 68495 Da
Cofactor: Binds 1 4Fe-4S cluster
Cofactor: FAD
Subunit: Monomer
Subcellular location: Mitochondrion inner membrane
Sequence caution: Sequence=CAD98030.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Secondary accessions: Q7Z347

Explore the universe of human proteins at neXtProt for ETFDH: NX_Q16134

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16134

  • 4/21 DME Specific Peptides for ETFDH (Q16134) (see all 21)
     HTAMKSG  VRNIRPS  TIFAEGC  SIFNQLT 

    ETFDH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004444.2  
    ENSEMBL proteins: 
     ENSP00000425661   ENSP00000426638   ENSP00000422735   ENSP00000303552  
    Reactome Protein details: Q16134
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    Uscn Proteins for ETFDH

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane ----
    GO:0005759mitochondrial matrix TAS--
    GO:0031305integral to mitochondrial inner membrane IDA8306995
    GO:0031966mitochondrial membrane IDA12049629


    ETFDH for ontologies           About GeneDecksing



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

    ETFDH for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR007859 ETFD_OxRdtase
     IPR000103 Pyridine_nuc-diS_OxRdtase_2
     IPR017896 4Fe4S_Fe-S-bd

    Graphical View of Domain Structure for InterPro Entry Q16134

    ProtoNet protein and cluster: Q16134

    1 Blocks protein family: IPB007859 Electron transfer flavoprotein-ubiquinone oxidoreductase

    UniProtKB/Swiss-Prot: ETFD_HUMAN, Q16134
    Similarity: Belongs to the ETF-QO/FixC family
    Similarity: Contains 1 4Fe-4S ferredoxin-type domain


    (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: ETFD_HUMAN, Q16134
    Function: Accepts electrons from ETF and reduces ubiquinone
    Catalytic activity: Reduced electron-transferring flavoprotein + ubiquinone = electron-transferring flavoprotein +
    ubiquinol

         Genatlas biochemistry entry for ETFDH:
    electron transfer flavoprotein-ubiquinone reductase,inner mitochondrial membrane,oxidative phosphorylation (OXPHOS)

    Enzyme Number (IUBMB): EC 1.5.5.11 2

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    hsa-miR-3163
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    Inhib. RNA
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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004174electron-transferring-flavoprotein dehydrogenase activity IDA8306995
    GO:0009055electron carrier activity IDA12049629
    GO:0016491oxidoreductase activity IDA14640977
    GO:0043783oxidoreductase activity, oxidizing metal ions with flavin as acceptor ISS--
    GO:0046872metal ion binding IEA--


    ETFDH for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ETFDH:
     Decreased POU5F1-GFP protein e 


    (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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.1.00
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Respiratory electron transport0.81
    2Metabolism
    Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for ETFDH
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport



    ETFDH for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/24 Interacting proteins for ETFDH (Q161343 ENSP000003035524) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPD1P108093, ENSP000003400194I2D: score=2 STRING: ENSP00000340019
    ETFAP138043, ENSP000002679504I2D: score=1 STRING: ENSP00000267950
    ETFBP381173, ENSP000003461734I2D: score=1 STRING: ENSP00000346173
    PUS7Q96PZ03, ENSP000003487224I2D: score=4 STRING: ENSP00000348722
    AHCYP235263I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006979response to oxidative stress ISS--
    GO:0022900electron transport chain IDA8306995
    GO:0022904respiratory electron transport chain TAS--
    GO:0033539fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP17412732
    GO:0044281small molecule metabolic process TAS--


    ETFDH for ontologies           About GeneDecksing



    (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

    ETFDH for compounds           About GeneDecksing

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

    Browse Tocris compounds for ETFDH

    6 HMDB Compounds for ETFDH    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    IronArmco iron (see all 19)7439-89-6--
    QH2CoQH2 (see all 5)56275-39-9--
    SulfideSulfide (see all 4)18496-25-8--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    1 DrugBank Compound for ETFDH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol-- --target--10592235

    10/15 Novoseek chemical compound relationships for ETFDH gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 88.4 23 19249206 (2), 19265687 (2), 19774399 (1), 17050691 (1) (see all 16)
    flavin semiquinone 86.3 1 17050691 (1)
    ubiquinone 83.1 34 14640977 (5), 17050691 (4), 1332770 (2), 7757062 (2) (see all 14)
    flavin 75.4 5 17050691 (1), 17689999 (1), 10423253 (1), 20505899 (1)
    riboflavin 74 8 19265687 (3), 19249206 (2), 17689999 (1)
    semiquinone 70.7 4 9100014 (1), 10423253 (1), 9334218 (1)
    sarcosine 68.8 1 7798224 (1)
    iron-sulfur 62.4 6 16248429 (2), 1332770 (1), 8306995 (1), 17050691 (1)
    coq10 61.6 3 17412732 (1), 19249206 (1)
    hydroquinone 38.1 1 10423253 (1)

    Search CenterWatch for drugs/clinical trials and news about ETFDH / ETFD 

    (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,
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    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 ETFDH gene: 
    NM_004453.2  

    Unigene Cluster for ETFDH:

    Electron-transferring-flavoprotein dehydrogenase
    Hs.155729  [show with all ESTs]
    Unigene Representative Sequence: NM_004453
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000512251 ENST00000511912(uc003iqb.3 uc011cjg.2 uc010iqr.3 uc011cjh.2 uc010iqs.3)
    ENST00000507475 ENST00000510353(uc010iqq.3) ENST00000436096 ENST00000307738
    ENST00000506422 ENST00000514148

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    Additional cDNA sequence: 

    AK293737.1 AK304838.1 AK311435.1 AK314803.1 BC011890.1 BX538129.1 EU093082.1 EU093083.1 
    S69232.1 

    12 DOTS entries:

    DT.209671  DT.95207471  DT.100677304  DT.101963869  DT.95365454  DT.91746328  DT.101978508  DT.100696021 
    DT.121229977  DT.92021646  DT.92427401  DT.75186914 

    24/96 AceView cDNA sequences (see all 96):

    BU192297 AL551954 BU663211 CR594853 CR595253 CA389559 BM905640 CR597977 
    BX957055 BQ549601 BX507252 BX494383 BX538129 BG720541 BI677354 CA867090 
    BM914586 CF529532 AL551080 CB990986 BX644537 NM_004453 F27075 BM995634 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ETFDH (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^
    SP1:                          -     -                 -     -     -                             -                                                               
    SP2:                                                  -     -     -           -     -           -                                                               
    SP3:                          -     -     -     -     -     -     -     -     -     -           -                                                               
    SP4:                                                                                            -                                                               
    SP5:                          -     -                       -     -                                                                                             

    ExUns: 15
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for ETFDH

    (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

    ETFDH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGATATTAAA

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

    About this image
    See ETFDH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ETFDH

    SOURCE GeneReport for Unigene cluster: Hs.155729
        SABiosciences Expression via Pathway-Focused PCR Array including ETFDH: 
              PPAR Targets in human mouse rat

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    In Situ
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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)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ETFDH gene from 11/38 species (see all 38)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Etfdh1 , 5 electron transferring flavoprotein, dehydrogenase1, 5 88.64(n)1
    92.53(a)1
      3 (34.91 cM)5
    668411  NM_025794.21  NP_080070.21 
     796037885 
    chicken
    (Gallus gallus)
    Aves ETFDH1 electron-transferring-flavoprotein dehydrogenase 78.95(n)
    86.64(a)
      428724  NM_001031534.1  NP_001026705.1 
    lizard
    (Anolis carolinensis)
    Reptilia ETFDH6
    --
    84(a)
    1 ↔ 1
    5(128359013-128374221)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.190712 Xenopus laevis transcribed sequence with moderate similarity more 83.43(n)    BI675385.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa05a112 wufa05a11 74.86(n)   334845  CA474423.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG121401 , 3 electron-transferring-flavoprotein
    dehydrogenase3
    CG121401
    66(a)3
    60.95(n)1
    66.55(a)1
      46C43
    360311  NM_136692.11  NP_610536.11 
    worm
    (Caenorhabditis elegans)
    Secernentea let-7211 , 3 YAAS3
    Protein LET-7211
    63(a)3
    62(n)1
    63.75(a)1
      III(6516639-6518668)3
    1759161  NM_066014.51  NP_498415.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CIR2(YOR356W)4
    CIR21
    Putative ortholog of human electron transfer flavoprotein more4
    Cir2p1
    57.58(n)1
    55.23(a)1
      15(1007221-1009116)4
    8545381, 4  NP_015001.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ETFQO1 electron-transferring-flavoprotein dehydrogenase 59.91(n)
    56.1(a)
      818941  NM_129901.3  NP_181868.1 
    rice
    (Oryza sativa)
    Liliopsida Os.157672 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.17(n)    NM_197352.1 


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

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

    (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

    Human Gene Mutation Database (HGMD): ETFDH
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ETFDH
    DNA2.0 Custom Variant and Variant Library Synthesis for ETFDH

    (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

    ETFDH for disorders           About GeneDecksing

    OMIM gene information: 231675   
    OMIM disorders: 231680  
    UniProtKB/Swiss-Prot: ETFD_HUMAN, Q16134
  • Defects in ETFDH are the cause of glutaric aciduria type 2C (GA2C) [MIM:231680]. GA2C is an autosomal
  • recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple
    acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic,
    ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids

    12 diseases for ETFDH:    About MalaCards
    isobutyryl-coa dehydrogenase deficiency    glutaricaciduria, type iic    acyl-coa dehydrogenase    glutaric acidemia type ii
    glutaricaciduria    carnitine deficiency    developmental disabilities    metabolic disorders
    reye syndrome    ichthyosis    myopathy    hepatitis

    3 diseases from the University of Copenhagen DISEASES database for ETFDH:
    Systemic primary carnitine deficiency disease     Neutral lipid storage disease     Reye syndrome

    5 Novoseek disease relationships for ETFDH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ga ii 95.2 6 2000260 (1), 15669683 (1), 15662686 (1), 12815589 (1)
    metabolic disorder 69.2 13 19774399 (1), 8617498 (1), 17050691 (1), 17412732 (1) (see all 9)
    myopathy 48 3 19758981 (2), 15669683 (1)
    hypoglycemia 40.6 3 8617498 (1), 17977044 (1)
    acidosis 23.7 1 8617498 (1)

    Genatlas disease: ETFDH
    glutaric acidemia,type II

    Human Genome Epidemiology (HuGE) Navigator: ETFDH (4 documents)

    Export disorders for ETFDH 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 ETFDH gene, integrated from 9 sources (see all 67):
    (articles sorted by number of sources associating them with ETFDH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase. (PubMed id 8306995)1, 2, 9 Goodman S.I....Frerman F.E. (1994)
    2. 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. (2004)
    3. Novel mutations in ETFDH gene in Chinese patients wit h riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. (PubMed id 19265687)1, 9 Law L.K....Lam C.W. (2009)
    4. High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-C oA dehydrogenase deficiency. (PubMed id 20138856)1, 9 Er T.K....Jong Y.J. (2010)
    5. Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. (PubMed id 17050691)1, 9 Zhang J....Kim J.J. (2006)
    6. Alternative quinone substrates and inhibitors of human electron-transfer flavoprotein-ubiquinone oxidoreductase. (PubMed id 14640977)1, 9 Simkovic M. and Frerman F.E. (2004)
    7. Electron spin relaxation enhancement measurements of interspin distances in human, porcine, and Rhodobacter electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO). (PubMed id 18037314)1, 9 Fielding A.J....Eaton S.S. (2008)
    8. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. (PubMed id 17412732)1, 9 Gempel K....Horvath R. (2007)
    9. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. (PubMed id 19249206)1, 9 Liang W.C....Nishino I. (2009)
    10. Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human. (PubMed id 8617498)1, 9 White R.A....Koeller D.M. (1996)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2110 HGNC: 3483 AceView: ETFDH Ensembl:ENSG00000171503 euGenes: HUgn2110
    ECgene: ETFDH H-InvDB: ETFDH

    (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 ETFDH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ETFDH

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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