dihydrolipoamide dehydrogenase

Summary
Gene Symbol
  • DLD
Aliases
  • DLDH
  • E3
  • E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex
  • OGDC-E3
Organism
Homo sapiens (human)
External Links
NCBI Gene
1738
HGNC
2898
KEGG Gene ID
hsa:1738
PubChem
1738
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cytoplasmic vesicle
  • Disease variant
  • Disulfide bond
  • FAD
  • Flagellum
  • Mitochondrion
  • NAD
  • Nucleotide-binding
  • Nucleus
  • Oxidoreductase
  • Phosphoprotein
  • Proteomics identification
  • Redox-active center
  • Reference proteome
  • Transit peptide
Proteins
Displaying all 3 entries
UniProt Protein Name
E9PEX6
A0A024R713
P09622
  • Dihydrolipoamide dehydrogenase
  • Glycine cleavage system L protein
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000091140

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
K00382
Name
dihydrolipoyl dehydrogenase [EC:1.8.1.4]
References
Disease
Disease Ontology
Displaying entries 81 - 90 of 195 in total
DO ID Disease Name Source
DOID:1595 melancholic depression
DOID:1596 depressive disorder
DOID:1612 breast cancer
DOID:162 cancer
DOID:178 vascular disease
DOID:1790 malignant mesothelioma
DOID:1793 pancreatic cancer
DOID:1799 islet cell tumor
DOID:1826 epilepsy
DOID:1837 diabetic ketoacidosis
The Human Phenotype Ontology
Displaying entries 21 - 30 of 39 in total
HPO ID HPO Term
HP:0001993 Ketoacidosis
HP:0002013 Vomiting
HP:0002151 Increased circulating lactate concentration
HP:0002240 Hepatomegaly
HP:0002480 Hepatic encephalopathy
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0003128 Lactic acidosis
HP:0003234 Decreased circulating carnitine concentration
HP:0003394 Muscle spasm
HP:0003542 Increased serum pyruvate
Displaying all 2 entries
Disease ID Disease Name
ORPHA:2394
  • pyruvate dehydrogenase E3 deficiency
OMIM:246900
  • pyruvate dehydrogenase E3 deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001594
Gene Name
dihydrolipoamide dehydrogenase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024