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 171 - 180 of 195 in total
DO ID Disease Name Source
DOID:686 liver carcinoma
DOID:769 neuroblastoma
DOID:7757 childhood leukemia
DOID:799 varicose veins
DOID:824 periodontitis
DOID:850 lung disease
DOID:8527 monocytic leukemia
DOID:8577 ulcerative colitis
DOID:8593 chronic monocytic leukemia
DOID:863 nervous system disease
The Human Phenotype Ontology
Displaying entries 31 - 39 of 39 in total
HPO ID HPO Term
HP:0003593 Infantile onset
HP:0003819 Death in childhood
HP:0007663 Reduced visual acuity
HP:0008344 Elevated circulating branched chain amino acid concentration
HP:0010913 Hyperisoleucinemia
HP:0011968 Feeding difficulties
HP:0012402 Increased urine alpha-ketoglutarate concentration
HP:0012758 Neurodevelopmental delay
HP:0100724 Hypercoagulability
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