enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

Summary
Gene Symbol
  • EHHADH
Organism
Homo sapiens (human)
External Links
NCBI Gene
1962
HGNC
3247
KEGG Gene ID
hsa:1962
PubChem
1962
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Alternative splicing
  • Disease variant
  • Fatty acid metabolism
  • Isomerase
  • Lyase
  • Multifunctional enzyme
  • NAD
  • Oxidoreductase
  • Peroxisome
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
Q08426
  • L-bifunctional protein
  • Multifunctional enzyme 1
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000113790

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
K07514
Name
enoyl-CoA hydratase / 3-hydroxyacyl-CoA dehydrogenase / 3,2-trans-enoyl-CoA isomerase [EC:4.2.1.17 1.1.1.35 5.3.3.8]
References
Disease
Disease Ontology
Displaying entries 31 - 39 of 39 in total
DO ID Disease Name Source
DOID:409 liver disease
DOID:4480 achondroplasia
DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type
DOID:576 proteinuria
DOID:684 hepatocellular carcinoma
DOID:9120 amyloidosis
DOID:9266 cystinuria
DOID:9521 Laron syndrome
DOID:9870 galactosemia
The Human Phenotype Ontology
Displaying entries 31 - 38 of 38 in total
HPO ID HPO Term
HP:0003646 Bicarbonaturia
HP:0003774 Stage 5 chronic kidney disease
HP:0004322 Short stature
HP:0004910 Bicarbonate-wasting renal tubular acidosis
HP:0004912 Hypophosphatemic rickets
HP:0004918 Hyperchloremic metabolic acidosis
HP:0012606 Renal sodium wasting
HP:0012622 Chronic kidney disease
Displaying all 2 entries
Disease ID Disease Name
OMIM:615605
  • Fanconi renotubular syndrome 3
ORPHA:3337
  • Fanconi renotubular syndrome 1
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002229
Gene Name
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Ortholog
Displaying entry 81 - 81 of 81 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
115611825 STRHB11204

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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