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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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GCDH
glutaryl-CoA dehydrogenase
Chromosome 19 Β· 19p13.13
NCBI Gene: 2639Ensembl: ENSG00000105607.15HGNC: HGNC:4189UniProt: Q92947
118PubMed Papers
21Diseases
0Drugs
323Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
L-lysine catabolic processnucleusmitochondrionglutaryl-CoA dehydrogenase activityglutaryl-CoA dehydrogenase deficiencygenetic disorderDystoniaAbnormality of metabolism/homeostasis
✦AI Summary

GCDH (glutaryl-CoA dehydrogenase) is a mitochondrial enzyme that catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO2, a critical step in the degradation of lysine, hydroxylysine, and tryptophan 1. The enzyme uses electron transfer flavoprotein as its electron acceptor and localizes to the mitochondrial matrix 1. Beyond its classical metabolic role, GCDH functions in protein modification through crotonylation. In glioblastoma stem cells, GCDH accumulates crotonyl-CoA that translocates to the nucleus, where it interacts with the crotonyltransferase CBP to promote histone lysine crotonylation 2. Similarly, in hepatocellular carcinoma, GCDH-mediated crotonylation of glycolytic and pentose phosphate pathway proteins suppresses tumor progression by limiting the Warburg effect and inducing cellular senescence 3. In melanoma, GCDH suppresses cell death by controlling NRF2 glutarylation, preventing apoptotic signaling 4. Pathogenic GCDH variants cause glutaric aciduria type 1 (GA1), a rare autosomal recessive neurometabolic disorder characterized by accumulation of neurotoxic metabolites and striatal damage before age 3-6 years in untreated patients 1. Over 421 different GCDH variants have been identified, with variant pathogenicity correlating to residual enzyme activity 5. Early newborn screening and lysine-restricted diet substantially improve neurological outcomes 1, and AAV9-mediated GCDH gene therapy shows promise in preclinical models 6.

Sources cited
1
GCDH catalyzes oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA; deficiency causes glutaric aciduria type 1 with striatal damage; early dietary treatment improves outcomes
PMID: 36221165
2
GCDH generates crotonyl-CoA in nucleus where it interacts with CBP to promote histone lysine crotonylation affecting immune response
PMID: 37198486
3
GCDH suppresses HCC progression through crotonylation of PPP and glycolysis proteins, inducing senescence and anti-tumor immunity
PMID: 38825017
4
GCDH controls NRF2 glutarylation to suppress apoptotic signaling in melanoma cells
PMID: 36050469
5
421 different GCDH pathogenic variants identified; variant pathogenicity correlates with residual enzyme activity
PMID: 37020324
6
AAV9-mediated GCDH gene therapy restores enzyme activity in liver and striatum, protecting against neurotoxic metabolite accumulation
PMID: 38983872
Disease Associationsβ“˜21
glutaryl-CoA dehydrogenase deficiencyOpen Targets
0.87Strong
genetic disorderOpen Targets
0.51Moderate
DystoniaOpen Targets
0.42Moderate
Abnormality of metabolism/homeostasisOpen Targets
0.41Moderate
Elevated circulating glutaric acid concentrationOpen Targets
0.40Moderate
congenital dyserythropoietic anemia type 4Open Targets
0.34Weak
Congenital dyserythropoietic anemia type IVOpen Targets
0.34Weak
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.34Weak
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.34Weak
hypomyelinating leukodystrophy 2Open Targets
0.34Weak
primary ciliary dyskinesiaOpen Targets
0.34Weak
diabetes mellitusOpen Targets
0.16Weak
atrial fibrillationOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
preeclampsiaOpen Targets
0.05Suggestive
primary hyperoxaluria type 3Open Targets
0.04Suggestive
Glutaric aciduria 1UniProt
Pathogenic Variants323
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)Pathogenic
Glutaric aciduria, type 1|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 227
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)Pathogenic
not provided|Glutaric aciduria, type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 94
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)Pathogenic
Glutaric aciduria, type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 178
NM_000159.4(GCDH):c.880C>T (p.Arg294Trp)Pathogenic
Glutaric aciduria, type 1|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 294
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)Pathogenic
Glutaric aciduria, type 1|not provided|GCDH-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 405
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)Pathogenic
Glutaric aciduria, type 1|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 191
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)Pathogenic
Glutaric aciduria, type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 339
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)Pathogenic
Glutaric aciduria, type 1|not provided|Abnormality of metabolism/homeostasis|Inborn genetic diseases|Primary ciliary dyskinesia 29|See cases
β˜…β˜…β˜†β˜†2026β†’ Residue 402
NM_000159.4(GCDH):c.1213dup (p.Met405fs)Pathogenic
Glutaric aciduria, type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 405
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)Pathogenic
Glutaric aciduria, type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 128
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)Pathogenic
Glutaric aciduria, type 1|not provided|GCDH-related disorder|Glutaric acidaemia I newborn screening follow up
β˜…β˜…β˜†β˜†2026β†’ Residue 414
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)Pathogenic
Glutaric aciduria, type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 433
NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly)Pathogenic
not provided|Glutaric aciduria, type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 386
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)Pathogenic
Glutaric aciduria, type 1|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 88
NM_000159.4(GCDH):c.848del (p.Leu283fs)Pathogenic
Glutaric aciduria, type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 283
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)Pathogenic
Glutaric aciduria, type 1|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 293
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)Pathogenic
Glutaric aciduria, type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 139
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)Pathogenic
Glutaric aciduria, type 1|not provided|Inborn genetic diseases|GCDH-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 400
NM_000159.4(GCDH):c.406G>T (p.Gly136Cys)Pathogenic
Glutaric aciduria, type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 136
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)Pathogenic
Glutaric aciduria, type 1|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 161
View on ClinVar β†—
Related Genes
ACAA1Protein interaction100%ACAA2Protein interaction100%ACOX3Protein interaction99%ECI2Protein interaction97%ACADSProtein interaction97%ACADSBProtein interaction97%
Tissue Expression6 tissues
Liver
100%
Heart
36%
Ovary
23%
Brain
21%
Bone Marrow
17%
Lung
16%
Gene Interaction Network
Click a node to explore
GCDHACAA1ACAA2ACOX3ECI2ACADSACADSB
PROTEIN STRUCTURE
Preparing viewer…
PDB1SIQ Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.75LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.56 [0.42–0.75]
RankingsWhere GCDH stands among ~20K protein-coding genes
  • #3,993of 20,598
    Most Researched118 Β· top quartile
  • #186of 5,498
    Most Pathogenic Variants323 Β· top 5%
  • #5,963of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedGCDH
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Lysine catabolism reprograms tumour immunity through histone crotonylation.
PMID: 37198486
Nature Β· 2023
1.00
2
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
PMID: 36221165
J Inherit Metab Dis Β· 2023
0.90
3
Glutaryl-CoA dehydrogenase suppresses tumor progression and shapes an anti-tumor microenvironment in hepatocellular carcinoma.
PMID: 38825017
J Hepatol Β· 2024
0.80
4
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
PMID: 37020324
J Inherit Metab Dis Β· 2023
0.70
5
Preserving mitochondrial homeostasis protects against drug-induced liver injury via inducing OPTN (optineurin)-dependent Mitophagy.
PMID: 39099169
Autophagy Β· 2024
0.60