ETFDH Gene (Protein Coding)

Electron Transfer Flavoprotein Dehydrogenase

GC04P158672
GIFtS:
46
This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by R... See more...

Aliases for ETFDH Gene

Aliases for ETFDH Gene

  • Electron Transfer Flavoprotein Dehydrogenase 2 3 5
  • Electron-Transferring-Flavoprotein Dehydrogenase 2 3 4
  • Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase, Mitochondrial 3 4
  • ETF-Ubiquinone Oxidoreductase 3 4
  • ETF Dehydrogenase 3 4
  • EC 1.5.5.1 4 51
  • ETF-QO 3 4
  • ETFQO 2 3
  • Mutant Electron Transfer Flavoprotein Dehydrogenase 3
  • ETFDH 5
  • MADD 3

External Ids for ETFDH Gene

Previous GeneCards Identifiers for ETFDH Gene

  • GC04P160443
  • GC04P160022
  • GC04P160171
  • GC04P160145
  • GC04P159951
  • GC04P159812
  • GC04P159593
  • GC04P155343

Summaries for ETFDH Gene

Entrez Gene Summary for ETFDH Gene

  • This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

GeneCards Summary for ETFDH Gene

ETFDH (Electron Transfer Flavoprotein Dehydrogenase) is a Protein Coding gene. Diseases associated with ETFDH include Multiple Acyl-Coa Dehydrogenase Deficiency and Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot Summary for ETFDH Gene

Gene Wiki entry for ETFDH Gene

Additional gene information for ETFDH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ETFDH Gene

Genomics for ETFDH Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ETFDH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETFDH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETFDH

Top Transcription factor binding sites by QIAGEN in the ETFDH gene promoter:
  • GATA-2
  • Gfi-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for ETFDH Gene

Latest Assembly
chr4:158,672,125-158,709,623
(GRCh38/hg38)
Size:
37,499 bases
Orientation:
Plus strand

Previous Assembly
chr4:159,593,448-159,630,775
(GRCh37/hg19 by Entrez Gene)
Size:
37,328 bases
Orientation:
Plus strand

chr4:159,593,277-159,630,775
(GRCh37/hg19 by Ensembl)
Size:
37,499 bases
Orientation:
Plus strand

Genomic View for ETFDH Gene

Genes around ETFDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETFDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETFDH Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ETFDH Gene

Proteins for ETFDH Gene

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  • Protein details for ETFDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16134-ETFD_HUMAN
    Recommended name:
    Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
    Protein Accession:
    Q16134
    Secondary Accessions:
    • B4E3R9
    • J3KND9
    • Q7Z347

    Protein attributes for ETFDH Gene

    Size:
    617 amino acids
    Molecular mass:
    68495 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=CAD98030.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for ETFDH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETFDH Gene

Protein Expression for ETFDH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ETFDH Gene

Q16134:
  • ELFPDWKE
  • DKRWEGVNMERFAEEADVVIVGAGPAGLSAA
  • HTAMKSG
  • VRNIRPS
  • NHGNYIVRLG
  • VTEYEDNLK
  • SIFNQLT
  • NCEPQTYG
  • TYGIGLKELW
  • RVCLVEKAA
  • LKPAKDCTPIEYPKPDGQISFDLLSSVALSGTNHEHDQP
  • VRLGHLVSWMGEQAEALGVEVYPGYAAAE
  • IGAHTLSGACLDP
  • HCKTCDIK
  • PWTLKHKG
  • NEGGFQSIPKL
  • PKLTFPGG
  • QLTSENLQSKT
  • ARALNEGG
  • DGSVKGIATNDVGIQKDGAPK
  • TIFAEGC

Post-translational modifications for ETFDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ETFDH Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ETFDH Gene

Gene Families for ETFDH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ETFDH Gene

InterPro:
Blocks:
  • Electron transfer flavoprotein-ubiquinone oxidoreductase
ProtoNet:

Suggested Antigen Peptide Sequences for ETFDH Gene

GenScript: Design optimal peptide antigens:
  • Mutant electron-transferring flavoprotein dehydrogenase (A7UNU5_HUMAN)
  • Mutant electron-transferring flavoprotein dehydrogenase (A7UNU6_HUMAN)
  • Electron-transferring-flavoprotein dehydrogenase (ETFD_HUMAN)
  • cDNA, FLJ95677, Homo sapiens electron-transferring-flavoprotein dehydrogenase(ETFDH), nuclear gene encoding mitochondrial protein, mRNA (Q547S8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16134

UniProtKB/Swiss-Prot:

ETFD_HUMAN :
  • Belongs to the ETF-QO/FixC family.
Family:
  • Belongs to the ETF-QO/FixC family.
genes like me logo Genes that share domains with ETFDH: view

Function for ETFDH Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for ETFDH Gene

UniProtKB/Swiss-Prot Function:
Accepts electrons from ETF and reduces ubiquinone.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ubiquinone + reduced [electron-transfer flavoprotein] = a ubiquinol + H(+) + oxidized [electron-transfer flavoprotein]; Xref=Rhea:RHEA:24052, Rhea:RHEA-COMP:9565, Rhea:RHEA-COMP:9566, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:16389, ChEBI:CHEBI:17976, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; EC=1.5.5.1;.
GENATLAS Biochemistry:
electron transfer flavoprotein-ubiquinone reductase,inner mitochondrial membrane,oxidative phosphorylation (OXPHOS)

Enzyme Numbers (IUBMB) for ETFDH Gene

Phenotypes From GWAS Catalog for ETFDH Gene

Gene Ontology (GO) - Molecular Function for ETFDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004174 electron-transferring-flavoprotein dehydrogenase activity TAS --
GO:0005515 protein binding IPI 32296183
GO:0009055 electron transfer activity IDA 8306995
GO:0016491 oxidoreductase activity IEA,IDA 14640977
GO:0043783 oxidoreductase activity, oxidizing metal ions with flavin as acceptor IBA,ISS --
genes like me logo Genes that share ontologies with ETFDH: view
genes like me logo Genes that share phenotypes with ETFDH: view

Human Phenotype Ontology for ETFDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ETFDH Gene

MGI Knock Outs for ETFDH:
  • Etfdh Etfdh<tm1b(EUCOMM)Hmgu>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFDH

No data available for Transcription Factor Targets and HOMER Transcription for ETFDH Gene

Localization for ETFDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETFDH Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ETFDH gene
Compartment Confidence
mitochondrion 5
peroxisome 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ETFDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ETFDH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ETFDH Gene

Pathways & Interactions for ETFDH Gene

genes like me logo Genes that share pathways with ETFDH: view

Gene Ontology (GO) - Biological Process for ETFDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress ISS --
GO:0022900 electron transport chain IDA 8306995
GO:0022904 respiratory electron transport chain TAS --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP 17412732
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ETFDH: view

No data available for SIGNOR curated interactions for ETFDH Gene

Drugs & Compounds for ETFDH Gene

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(15) Drugs for ETFDH Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metformin Approved Pharma Target, inhibitor AMP-activated protein kinase (AMPK) activator 2290
Methylphenidate Approved, Investigational Pharma 441
FAD Approved Pharma 0
Coenzyme Q10 Approved, Investigational Nutra 194
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0

(11) Additional Compounds for ETFDH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH(2)
  • Ubiquinol
  • Ubiquinol 0
  • Ubiquinol 1
  • Ubiquinol 50
  • Ubiquinol 7
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
 56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
  • Sulphide(2-)
 18496-25-8
genes like me logo Genes that share compounds with ETFDH: view

Transcripts for ETFDH Gene

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mRNA/cDNA for ETFDH Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFDH

Alternative Splicing Database (ASD) splice patterns (SP) for ETFDH Gene

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: - - - -
SP6:
SP7:
SP8: - - -

ExUns: 15
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ETFDH Gene

GeneLoc Exon Structure for
ETFDH

Expression for ETFDH Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ETFDH Gene

mRNA expression in normal human tissues for ETFDH Gene
mRNA expression by GTEx for ETFDH GenemRNA expression by BioGPS for ETFDH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ETFDH Gene

This gene is overexpressed in Heart - Left Ventricle (x6.4) and Liver (x4.2).

Protein differential expression in normal tissues from HIPED for ETFDH Gene

This gene is overexpressed in Heart (13.7), Nasal epithelium (11.9), and Liver (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ETFDH Gene



Protein tissue co-expression partners for ETFDH Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ETFDH

SOURCE GeneReport for Unigene cluster for ETFDH Gene:

Hs.155729

Evidence on tissue expression from TISSUES for ETFDH Gene

  • Liver(4.6)
  • Intestine(4.4)
  • Lung(4.2)
  • Nervous system(3.3)
  • Heart(3.2)
  • Muscle(3)
  • Kidney(2.4)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ETFDH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • adrenal gland
  • kidney
  • liver
  • stomach
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with ETFDH: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for ETFDH Gene

Orthologs for ETFDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ETFDH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ETFDH 30 31
  • 99.62 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ETFDH 30 31
  • 92.22 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Etfdh 30
  • 89.66 (n)
Mouse
(Mus musculus)
 Mammalia Etfdh 30 17 31
  • 88.64 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ETFDH 31
  • 88 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ETFDH 30 31
  • 86.71 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ETFDH 31
  • 78 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ETFDH 30 31
  • 78.18 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ETFDH 31
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia etfdh 30
  • 76.04 (n)
Str.5283 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.19071 30
Zebrafish
(Danio rerio)
 Actinopterygii etfdh 30 31
  • 71.66 (n)
 OneToOne
wufa05a11 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4011 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG12140 31 32
  • 66 (a)
 OneToOne
Etf-QO 30
  • 60.95 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP005894 30
  • 60.76 (n)
Worm
(Caenorhabditis elegans)
 Secernentea let-721 30 31 32
  • 62 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C12991g 30
  • 57.8 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CIR2 30 31 33
  • 57.07 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ADR387W 30
  • 53.77 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons ETFQO 30
  • 57.89 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.7097 30
Rice
(Oryza sativa)
 Liliopsida Os10g0516300 30
  • 59.55 (n)
Os.15767 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5971 31
  • 70 (a)
 OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC20G8.04c 30
  • 57.83 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU04768 30
  • 54.07 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.13772 30
Species where no ortholog for ETFDH was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ETFDH Gene

ENSEMBL:
Gene Tree for ETFDH (if available)
TreeFam:
Gene Tree for ETFDH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ETFDH: view image

Paralogs for ETFDH Gene

No data available for Paralogs for ETFDH Gene

Variants for ETFDH Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETFDH Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
203722 Pathogenic: Multiple acyl-CoA dehydrogenase deficiency 158,706,254(+) G/C
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu) 		MISSENSE
834431 Pathogenic: Multiple acyl-CoA dehydrogenase deficiency 158,706,714(+) CTT/C
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs) 		FRAMESHIFT
834433 Likely Pathogenic: Multiple acyl-CoA dehydrogenase deficiency 158,697,619(+) C/T
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser) 		MISSENSE
838992 Likely Pathogenic: Multiple acyl-CoA dehydrogenase deficiency 158,703,422(+) G/A
NM_004453.4(ETFDH):c.1117-1G>A 		SPLICE_ACCEPTOR
843206 Uncertain Significance: Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency 158,703,424(+) C/T
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ETFDH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ETFDH Gene

Variant ID Type Subtype PubMed ID
nsv830125 CNV gain 17160897

Variation tolerance for ETFDH Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETFDH Gene

Human Gene Mutation Database (HGMD)
ETFDH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETFDH

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETFDH Gene

Disorders for ETFDH Gene

MalaCards: The human disease database

(33) MalaCards diseases for ETFDH Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
multiple acyl-coa dehydrogenase deficiency
  • madd
multiple acyl-coa dehydrogenase deficiency, mild type
  • glutaric aciduria type 2, mild type
multiple acyl-coa dehydrogenase deficiency, severe neonatal type
  • glutaric aciduria type 2, severe neonatal type
acyl-coa dehydrogenase deficiency
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search ETFDH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ETFD_HUMAN
  • Glutaric aciduria 2C (GA2C) [MIM:231680]: 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. {ECO:0000269 PubMed:12359134, ECO:0000269 PubMed:12815589, ECO:0000269 PubMed:16527485, ECO:0000269 PubMed:17412732, ECO:0000269 PubMed:19249206, ECO:0000269 PubMed:20370797}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for ETFDH Gene

glutaric acidemia,type II

Additional Disease Information for ETFDH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ETFDH: view

Publications for ETFDH Gene

  1. High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. (PMID: 20370797) Lan MY … Chen SS (Clinical genetics 2010) 3 4 41
  2. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. (PMID: 19249206) Liang WC … Nishino I (Neuromuscular disorders : NMD 2009) 3 4 23
  3. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. (PMID: 17412732) Gempel K … Horvath R (Brain : a journal of neurology 2007) 3 4 23
  4. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. (PMID: 12815589) Olsen RK … Gregersen N (Human mutation 2003) 3 4 23
  5. Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase. (PMID: 8306995) Goodman SI … Frerman FE (European journal of biochemistry 1994) 3 4 23

ExternalLinks

View latest publications for ETFDH gene in Mastermind

Products for ETFDH Gene

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