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 o... See more...

Aliases for GCDH Gene

Aliases for GCDH Gene

  • Glutaryl-CoA Dehydrogenase 2 3 5
  • GCD 2 3 4
  • Glutaryl-CoA Dehydrogenase, Mitochondrial 3 4
  • Glutaryl-Coenzyme A Dehydrogenase 2 3
  • ACAD5 2 3
  • Truncated Glutaryl-CoA Dehydrogenase 3
  • Truncated GCDH 3
  • EC 1.3.99.7 50
  • EC 1.3.8.6 4
  • EC 1.3.99 50
  • GCDH 5

External Ids for GCDH Gene

Previous GeneCards Identifiers for GCDH Gene

  • GC19P013133
  • GC19P013224
  • GC19P012847
  • GC19P012862
  • GC19P012863
  • GC19P013001
  • GC19P012573

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 Glutaric Acidemia I and Athetosis. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Lysine degradation. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and fatty-acyl-CoA binding. An important paralog of this gene is ACOX3.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GCDH Gene

Genomics for GCDH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GCDH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J012890 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 266.9 +0.2 165 2.2 SP1 MYC ZNF600 NCOR1 IKZF1 JUND POLR2A ZNF10 BRCA1 YY1 GCDH HSALNG0124176 KLF1 ZNF136 YJU2B ZNF564 ZNF44 ZNF799 TRIR ZNF700
GH19J012889 Enhancer 0.3 CraniofacialAtlas 250.7 -1.1 -1142 0.4 ZC3H8 MZF1 GCDH HSALNG0124176 KLF1 RF00017-2550
GH19J012936 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.7 +48.0 48003 5.8 SP1 NCOR1 ZNF207 MYC ZNF600 IKZF1 ZNF580 ZNF592 ZMYM3 POLR2A CALR MIR6515 NONHSAG024912.2 ZNF136 TRMT1 ZNF625 ZNF442 YJU2B RPS6P25 ZNF844
GH19J012943 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 16.5 +55.7 55739 6.9 BCLAF1 SP1 ZNF207 NCOR1 ZNF600 IKZF1 MYC JUND ATF2 KLF9 HSALNG0124192 RAD23A ZNF136 YJU2B TRMT1 ZNF442 ZNF625 DHPS MRI1 ZNF844
GH19J012932 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 16.7 +42.4 42359 2.3 SP1 ZNF207 NCOR1 MYC ZNF600 SIX5 ZNF580 ZNF592 ZMYM3 ATF2 FARSA GCDH DNASE2 FARSA-AS1 SYCE2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the GCDH gene promoter:
  • AML1a

Genomic Locations for GCDH Gene

Latest Assembly
chr19:12,891,129-12,914,207
(GRCh38/hg38)
Size:
23,079 bases
Orientation:
Plus strand

Previous Assembly
chr19:13,001,943-13,010,813
(GRCh37/hg19 by Entrez Gene)
Size:
8,871 bases
Orientation:
Plus strand

chr19:13,001,840-13,025,021
(GRCh37/hg19 by Ensembl)
Size:
23,182 bases
Orientation:
Plus strand

Genomic View for GCDH Gene

Genes around GCDH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GCDH Gene

Proteins for GCDH Gene

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

    Protein Symbol:
    Q92947-GCDH_HUMAN
    Recommended name:
    Glutaryl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    Q92947
    Secondary Accessions:
    • A8K2Z2
    • O14719

    Protein attributes for GCDH Gene

    Size:
    438 amino acids
    Molecular mass:
    48127 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for GCDH Gene

Selected DME Specific Peptides for GCDH Gene

Q92947:
  • VNTYEGTHD
  • LAKGELLGCFGLTEPN
  • VEVPEENVLP
  • PIYAYGSEEQ
  • VWARCED
  • LKRNNCGKALDIARQARD
  • KLADMLTEITLGLHACLQLGRLKDQDK
  • HALILGRAITG
  • FGLTEPN

Post-translational modifications for GCDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for GCDH Gene

Gene Families for GCDH Gene

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

Suggested Antigen Peptide Sequences for GCDH Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59559, highly similar to Glutaryl-CoA dehydrogenase, mitochondrial (EC 1.3.99.7) (B4DK85_HUMAN)
  • cDNA FLJ59956, highly similar to Glutaryl-CoA dehydrogenase, mitochondrial (EC 1.3.99.7) (B4DQF2_HUMAN)
  • Glutaryl-CoA dehydrogenase, mitochondrial (GCDH_HUMAN)
  • Glutaryl CoA dehydrogenase (Q36741_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92947

UniProtKB/Swiss-Prot:

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

Function for GCDH Gene

Molecular function for GCDH Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glutaryl-CoA + 2 H(+) + oxidized [electron-transfer flavoprotein] = (2E)-butenoyl-CoA + CO2 + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:13389, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57332, ChEBI:CHEBI:57378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; EC=1.3.8.6; Evidence={ECO:0000269|PubMed:8541831};.
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 EnzymeRegulation:
Strongly inhibited by MCPA-CoA, a metabolite of hypoglycin which is present in unripened fruit of the ackee tree.
GENATLAS Biochemistry:
glutaryl-CoA dehydrogenase,flavoprotein dependent,mitochondrial matrix,lysine oxidation

Enzyme Numbers (IUBMB) for GCDH Gene

Phenotypes From GWAS Catalog 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 IBA 21873635
GO:0003995 acyl-CoA dehydrogenase activity IEA --
GO:0004361 glutaryl-CoA dehydrogenase activity TAS,IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
genes like me logo Genes that share ontologies with GCDH: view
genes like me logo Genes that share phenotypes with GCDH: view

Human Phenotype Ontology for GCDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GCDH Gene

MGI Knock Outs for GCDH:
  • Gcdh Gcdh<tm1Dmk>
  • Gcdh Gcdh<tm2b(EUCOMM)Hmgu>

Inhibitory RNAs for research

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

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

Localization for GCDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCDH Gene

Mitochondrion matrix.

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 GCDH gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GCDH Gene

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

Pathways & Interactions 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 IEA --
GO:0019395 fatty acid oxidation IEA --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA,IDA 25416781
genes like me logo Genes that share ontologies with GCDH: view

No data available for SIGNOR curated interactions for GCDH Gene

Drugs & Compounds for GCDH Gene

(10) Drugs for GCDH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
S-4-Nitrobutyryl-CoA Experimental Pharma Target 0
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(36) Additional Compounds for GCDH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glutaryl-coa
  • Glutaryl-coenzyme A
103192-48-9
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • Dodecenoyl-CoA
  • Dodecenoyl+2-dodecenoyl, (e)-isomer
  • Dodecenoyl-coenzyme A
  • Dodecenoyl+2-dodecenoyl
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
genes like me logo Genes that share compounds with GCDH: view

Transcripts for GCDH Gene

mRNA/cDNA for GCDH Gene

2 REFSEQ mRNAs :
51 NCBI additional mRNA sequence :
16 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 GCDH

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

No ASD Table

Relevant External Links for GCDH Gene

GeneLoc Exon Structure for
GCDH

Expression for GCDH Gene

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

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

This gene is overexpressed in Liver (x4.9).

Protein differential expression in normal tissues from HIPED for GCDH Gene

This gene is overexpressed in Liver (10.0), Salivary gland (7.3), and Peripheral blood mononuclear cells (6.1).

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



Protein tissue co-expression partners for GCDH Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for GCDH Gene:

Hs.532699

mRNA Expression by UniProt/SwissProt for GCDH Gene:

Q92947-GCDH_HUMAN
Tissue specificity: Isoform Long and isoform Short are expressed in fibroblasts and liver.

Evidence on tissue expression from TISSUES for GCDH Gene

  • Liver(4.6)
  • Blood(4.5)
  • Nervous system(4.3)
  • Kidney(2.9)
  • Muscle(2.7)
  • Heart(2.7)
  • Intestine(2.6)
  • Thyroid gland(2.5)
  • Adrenal gland(2.4)
  • Lung(2.3)
  • Eye(2.3)
  • Gall bladder(2.1)
  • Lymph node(2.1)
  • Pancreas(2.1)
  • Spleen(2.1)
  • Stomach(2.1)
  • Skin(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • face
  • forehead
  • head
  • skull
Thorax:
  • esophagus
  • heart
Abdomen:
  • adrenal gland
  • liver
  • stomach
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with GCDH: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GCDH Gene

Orthologs for GCDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GCDH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GCDH 29 30
  • 98.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GCDH 29 30
  • 87.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GCDH 29 30
  • 86.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gcdh 29 16 30
  • 83.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gcdh 29
  • 83.07 (n)
Oppossum
(Monodelphis domestica)
Mammalia GCDH 30
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GCDH 30
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GCDH 29
  • 79.06 (n)
Lizard
(Anolis carolinensis)
Reptilia GCDH 30
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gcdh 29
  • 72.08 (n)
Str.16156 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.6713 29
Zebrafish
(Danio rerio)
Actinopterygii gcdh 30
  • 72 (a)
OneToMany
gcdhl 29 30
  • 70.65 (n)
OneToMany
zgc77704 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5525 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008501 29
  • 66.58 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG9547 29 30 31
  • 65.33 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F54D5.7 30 31
  • 62 (a)
OneToOne
CELE_F54D5.7 29
  • 61.39 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ACX4 29
  • 46.51 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0159400 29
  • 46.33 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02291 29
  • 62.1 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4265 29
Species where no ortholog for GCDH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
  • 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

ENSEMBL:
Gene Tree for GCDH (if available)
TreeFam:
Gene Tree for GCDH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GCDH: view image
Alliance of Genome Resources:
Additional Orthologs for GCDH

Paralogs for GCDH Gene

(60) SIMAP similar genes for GCDH Gene using alignment to 11 proteins:

  • GCDH_HUMAN
  • B4DK85_HUMAN
  • G8FL39_HUMAN
  • K7EKH1_HUMAN
  • K7EKT3_HUMAN
  • K7EQ99_HUMAN
  • K7ER63_HUMAN
  • K7ERX1_HUMAN
  • K7ES74_HUMAN
  • K7ESA6_HUMAN
  • Q36741_HUMAN

Pseudogenes.org Pseudogenes for GCDH Gene

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

Variants for GCDH Gene

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

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1000110 Uncertain Significance: Glutaric aciduria, type 1 12,896,284(+) G/A
NM_000159.4(GCDH):c.715G>A (p.Glu239Lys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1011761 Uncertain Significance: Glutaric aciduria, type 1 12,892,144(+) G/A
NM_000159.4(GCDH):c.300G>A (p.Met100Ile)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1012927 Pathogenic: not provided 12,891,966(+) G/A
NM_000159.4(GCDH):c.263G>A (p.Arg88His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1028582 Pathogenic: Glutaric aciduria, type 1 12,897,864(+) G/T
NM_000159.4(GCDH):c.1243+1G>T
SPLICE_DONOR
1041029 Uncertain Significance: Glutaric aciduria, type 1 12,896,296(+) C/T
NM_000159.4(GCDH):c.727C>T (p.Arg243Trp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

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

Variant ID Type Subtype PubMed ID
nsv1160589 CNV duplication 26073780
nsv833754 CNV loss 17160897
nsv953977 CNV deletion 24416366
nsv961183 CNV duplication 23825009

Variation tolerance for GCDH Gene

Residual Variation Intolerance Score: 13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GCDH Gene

Human Gene Mutation Database (HGMD)
GCDH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCDH
Leiden Open Variation Database (LOVD)
GCDH

SNP Genotyping and Copy Number Assays for research

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

Disorders for GCDH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glutaric acidemia i
  • ga1
athetosis
2-hydroxyglutaric aciduria
  • 2-hydroxyglutaricaciduria
organic acidemia
  • organic acid metabolism disorder
dystonia
  • dystonic disease
- elite association - COSMIC cancer census association via MalaCards
Search GCDH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GCDH_HUMAN
  • 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:18775954, 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 variants affecting the gene represented in this entry.

Additional Disease Information for GCDH

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 GCDH: view

No data available for Genatlas for GCDH Gene

Publications for GCDH Gene

  1. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). (PMID: 18775954) Keyser B … Braulke T (Human molecular genetics 2008) 3 4 22 72
  2. Kinetic mechanism of glutaryl-CoA dehydrogenase. (PMID: 17176108) Rao KS … Frerman FE (Biochemistry 2006) 3 4 22
  3. 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 JJ (Biochemistry 2004) 3 4 22
  4. 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 NJ (Human genetics 1998) 3 4 22
  5. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. (PMID: 9711871) Goodman SI … Elpeleg ON (Human mutation 1998) 3 4 22

Products for GCDH Gene

Sources for GCDH Gene