glutaryl-CoA dehydrogenase

Summary
Gene Symbol
  • GCDH
Aliases
  • ACAD5
  • GCD
Organism
Homo sapiens (human)
External Links
NCBI Gene
2639
HGNC
4189
KEGG Gene ID
hsa:2639
PubChem
2639
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Disease variant
  • FAD
  • Glutaricaciduria
  • Mitochondrion
  • Oxidoreductase
  • Reference proteome
  • Transit peptide
Proteins
Displaying 1 entry
UniProt Protein Name
Q92947
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000105607

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00252
Name
glutaryl-CoA dehydrogenase [EC:1.3.8.6]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 42 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050575 D-2-hydroxyglutaric aciduria
DOID:0050635 alternating hemiplegia of childhood
DOID:0050835 generalized dystonia
DOID:0050841 focal hand dystonia
DOID:0060444 granular corneal dystrophy 2
DOID:0060448 Fleck corneal dystrophy
DOID:0080199 colorectal carcinoma
DOID:0111254 glutaric acidemia I
DOID:0111351 D-2-hydroxyglutaric aciduria 1
The Human Phenotype Ontology
Displaying entries 41 - 50 of 67 in total
HPO ID HPO Term
HP:0003150 Glutaric aciduria
HP:0003162 Fasting hypoglycemia
HP:0003530 Elevated circulating glutaric acid concentration
HP:0003546 Exercise intolerance
HP:0003593 Infantile onset
HP:0003621 Juvenile onset
HP:0003623 Neonatal onset
HP:0004481 Progressive macrocephaly
HP:0006829 Severe muscular hypotonia
HP:0006873 Symmetrical progressive peripheral demyelination
Displaying all 2 entries
Disease ID Disease Name
ORPHA:25
  • glutaryl-CoA dehydrogenase deficiency
OMIM:231670
  • glutaryl-CoA dehydrogenase deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000751
Gene Name
glutaryl-CoA dehydrogenase

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024