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Aliases for GCDH Gene

Aliases for GCDH Gene

  • Glutaryl-CoA Dehydrogenase 2 3
  • Glutaryl-Coenzyme A Dehydrogenase 2 3
  • GCD 3 4
  • Glutaryl-CoA Dehydrogenase, Mitochondrial 3
  • EC 64
  • EC 4
  • EC 1.3.99 64
  • ACAD5 3

External Ids for GCDH Gene

Summaries for GCDH Gene

Entrez Gene Summary for GCDH Gene

  • The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]

GeneCards Summary for GCDH Gene

GCDH (Glutaryl-CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with GCDH include athetosis and glutaricaciduria, type i. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include flavin adenine dinucleotide binding and fatty-acyl-CoA binding. An important paralog of this gene is ACAD8.

UniProtKB/Swiss-Prot for GCDH Gene

  • Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCDH Gene

Genomics for GCDH Gene

Genomic Location for GCDH Gene

12,891,026 bp from pter
12,914,207 bp from pter
23,182 bases
Plus strand

Genomic View for GCDH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GCDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCDH Gene

Regulatory Elements for GCDH Gene

Transcription factor binding sites by QIAGEN in the GCDH gene promoter:

Proteins for GCDH Gene

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

    Protein Symbol:
    Recommended name:
    Glutaryl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A8K2Z2
    • O14719

    Protein attributes for GCDH Gene

    438 amino acids
    Molecular mass:
    48127 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for GCDH Gene

    Alternative splice isoforms for GCDH Gene


neXtProt entry for GCDH Gene

Proteomics data for GCDH Gene at MOPED

Post-translational modifications for GCDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCDH Gene

Domains for GCDH Gene


  • Belongs to the acyl-CoA dehydrogenase family.:
    • Q92947
genes like me logo Genes that share domains with GCDH: view

No data available for Gene Families for GCDH Gene

Function for GCDH Gene

Molecular function for GCDH Gene

GENATLAS Biochemistry: glutaryl-CoA dehydrogenase,flavoprotein dependent,mitochondrial matrix,lysine oxidation
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=4.7 uM for glutaryl-CoA (at pH 6.5) {ECO:0000269 PubMed:17176108, ECO:0000269 PubMed:6423663}; KM=5.5 uM for glutaryl-CoA (at pH 7.5) {ECO:0000269 PubMed:17176108, ECO:0000269 PubMed:6423663}; KM=8.1 uM for glutaryl-CoA (at pH 7.6) {ECO:0000269 PubMed:17176108, ECO:0000269 PubMed:6423663}; KM=34.0 uM for glutaryl-CoA (at pH 8.5) {ECO:0000269 PubMed:17176108, ECO:0000269 PubMed:6423663}; Note=Release of crotonyl-CoA product from the enzyme is the rate-determining step in its steady-state turnover.;
UniProtKB/Swiss-Prot CatalyticActivity: Glutaryl-CoA + electron-transfer flavoprotein = crotonyl-CoA + CO(2) + reduced electron-transfer flavoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation: Strongly inhibited by MCPA-CoA, a metabolite of hypoglycin which is present in unripened fruit of the ackee tree.
UniProtKB/Swiss-Prot Function: Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive.

Enzyme Numbers (IUBMB) for GCDH Gene

Gene Ontology (GO) - Molecular Function for GCDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IEA --
GO:0003995 acyl-CoA dehydrogenase activity --
GO:0004361 glutaryl-CoA dehydrogenase activity EXP --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with GCDH: view
genes like me logo Genes that share phenotypes with GCDH: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for GCDH Gene

Localization for GCDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCDH Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for GCDH Gene COMPARTMENTS Subcellular localization image for GCDH gene
Compartment Confidence
mitochondrion 5
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GCDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with GCDH: view

Pathways for GCDH Gene

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

UniProtKB/Swiss-Prot Q92947-GCDH_HUMAN

  • Pathway: Amino-acid metabolism; lysine degradation
  • Pathway: Amino-acid metabolism; tryptophan metabolism

Gene Ontology (GO) - Biological Process for GCDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006554 lysine catabolic process TAS --
GO:0006568 tryptophan metabolic process IEA --
GO:0006637 acyl-CoA metabolic process --
GO:0008152 metabolic process --
GO:0019395 fatty acid oxidation IEA --
genes like me logo Genes that share ontologies with GCDH: view

Compounds for GCDH Gene

(36) HMDB Compounds for GCDH Gene

Compound Synonyms Cas Number PubMed IDs
  • (E)-S-2-decenoate Coenzyme A
  • 2-trans-Dodecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
  • (2E)-Tetradecenoyl-Coenzyme A

(2) Drugbank Compounds for GCDH Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Flavin-Adenine Dinucleotide
146-14-5 target

(10) Novoseek inferred chemical compound relationships for GCDH Gene

Compound -log(P) Hits PubMed IDs
3-hydroxyglutaric acid 97.8 3
glutaric acid 95.4 7
glutarylcarnitine 95.3 1
glutaconic acid 92.2 1
glutaryl-coa 90.2 2
genes like me logo Genes that share compounds with GCDH: view

Transcripts for GCDH Gene

Unigene Clusters for GCDH Gene

Glutaryl-CoA dehydrogenase:
Representative Sequences:

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

No ASD Table

Relevant External Links for GCDH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GCDH Gene

mRNA expression in normal human tissues for GCDH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for GCDH Gene

SOURCE GeneReport for Unigene cluster for GCDH Gene Hs.532699

mRNA Expression by UniProt/SwissProt for GCDH Gene

Tissue specificity: Isoform 1 and isoform 2 are expressed in fibroblasts and liver
genes like me logo Genes that share expressions with GCDH: view

Orthologs for GCDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GCDH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GCDH 36
  • 98.63 (n)
  • 97.72 (a)
  • 98 (a)
(Bos Taurus)
Mammalia GCDH 36
  • 86.91 (n)
  • 87.67 (a)
  • 88 (a)
(Canis familiaris)
Mammalia GCDH 36
  • 87.98 (n)
  • 89.73 (a)
  • 90 (a)
(Mus musculus)
Mammalia Gcdh 36
  • 83.52 (n)
  • 87.59 (a)
Gcdh 16
Gcdh 37
  • 85 (a)
(Monodelphis domestica)
Mammalia GCDH 37
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia GCDH 37
  • 79 (a)
(Rattus norvegicus)
Mammalia Gcdh 36
  • 83.07 (n)
  • 88.74 (a)
(Gallus gallus)
Aves GCDH 36
  • 79.06 (n)
  • 82.3 (a)
(Anolis carolinensis)
Reptilia GCDH 37
  • 73 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6713 36
tropical clawed frog
(Silurana tropicalis)
Amphibia gcdh 36
  • 72.08 (n)
  • 74.83 (a)
Str.16156 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5525 36
(Danio rerio)
Actinopterygii gcdh 37
  • 72 (a)
gcdhl 36
  • 70.65 (n)
  • 73.44 (a)
gcdhl 37
  • 75 (a)
zgc77704 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008501 36
  • 66.58 (n)
  • 71.47 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9547 36
  • 65.33 (n)
  • 69.25 (a)
CG9547 37
  • 67 (a)
CG9547 38
  • 68 (a)
(Caenorhabditis elegans)
Secernentea CELE_F54D5.7 36
  • 61.39 (n)
  • 64.42 (a)
F54D5.7 37
  • 62 (a)
F54D5.7 38
  • 64 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACX4 36
  • 46.51 (n)
  • 37.14 (a)
(Oryza sativa)
Liliopsida Os01g0159400 36
  • 46.33 (n)
  • 39.26 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02291 36
  • 62.1 (n)
  • 57.61 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4265 36
Species with no ortholog for GCDH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 GCDH Gene

Gene Tree for GCDH (if available)
Gene Tree for GCDH (if available)

Paralogs for GCDH Gene

Paralogs for GCDH Gene Pseudogenes for GCDH Gene

genes like me logo Genes that share paralogs with GCDH: view

Variants for GCDH Gene

Sequence variations from dbSNP and Humsavar for GCDH Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1060212 -- 12,891,345(+) CCGCG(A/G)ACCCG missense, reference, nc-transcript-variant
rs1060218 Benign 12,897,793(+) GGGGG(G/T)AATGG reference, synonymous-codon, nc-transcript-variant
rs1799918 -- 12,891,586(+) CAGGT(C/G)GACTC intron-variant, nc-transcript-variant
rs2229460 -- 12,897,357(+) CTGGC(A/G)GACAT reference, synonymous-codon, nc-transcript-variant
rs2238641 -- 12,895,871(+) TGCCT(C/T)GGCCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3733n71 CNV Loss 21882294
nsv911082 CNV Loss 21882294
nsv833754 CNV Loss 17160897

Relevant External Links for GCDH Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for GCDH Gene

(1) OMIM Diseases for GCDH Gene (608801)


  • Glutaric aciduria 1 (GA1) [MIM:231670]: An autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. {ECO:0000269 PubMed:14707522, ECO:0000269 PubMed:24973495, ECO:0000269 PubMed:8541831, ECO:0000269 PubMed:8900227, ECO:0000269 PubMed:8900228, ECO:0000269 PubMed:9600243}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for GCDH Gene

Disease -log(P) Hits PubMed IDs
encephalopathy acute 74.7 1
encephalopathy 34.8 1
neurological disorders 32.4 3
neurodegeneration 31.2 3
cell damage 9.75 1

Relevant External Links for GCDH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with GCDH: view

Publications for GCDH Gene

  1. Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis. (PMID: 8088809) Greenberg C.R. … Goodman S.I. (Genomics 1994) 2 3 23
  2. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. (PMID: 8900227) Biery B.J. … Goodman S.I. (Am. J. Hum. Genet. 1996) 3 4 23
  3. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. (PMID: 9600243) Schwartz M. … Brandt N.J. (Hum. Genet. 1998) 3 4 23
  4. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. (PMID: 9711871) Goodman S.I. … Elpeleg O.N. (Hum. Mutat. 1998) 3 4 23
  5. Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions. (PMID: 15274622) Fu Z. … Kim J.-J.P. (Biochemistry 2004) 3 4 23

Products for GCDH Gene

Sources for GCDH Gene

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