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 1 - 10 of 39 in total
DO ID Disease Name Source
DOID:0050782 Zollinger-Ellison syndrome
DOID:0060235 carnitine palmitoyltransferase II deficiency
DOID:0060262 gallbladder disease
DOID:0070218 familial hyperinsulinemic hypoglycemia 2
DOID:0070219 familial hyperinsulinemic hypoglycemia 1
DOID:0080759 Fanconi renotubular syndrome 3
DOID:0090031 D-bifunctional protein deficiency
DOID:0111040 glycogen storage disease IXd
DOID:0111041 glycogen storage disease IXb
DOID:0111042 glycogen storage disease IXa
The Human Phenotype Ontology
Displaying entries 1 - 10 of 38 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000083 Renal insufficiency
HP:0000117 Renal phosphate wasting
HP:0001324 Muscle weakness
HP:0001510 Growth delay
HP:0001824 Weight loss
HP:0001942 Metabolic acidosis
HP:0001943 Hypoglycemia
HP:0001944 Dehydration
HP:0002049 Proximal renal tubular acidosis
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

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024