acyl-CoA dehydrogenase very long chain

Summary
Gene Symbol
  • ACADVL
Aliases
  • ACAD6
  • LCACD
  • VLCAD
Organism
Homo sapiens (human)
External Links
NCBI Gene
37
HGNC
92
KEGG Gene ID
hsa:37
PubChem
37
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cardiomyopathy
  • Direct protein sequencing
  • Disease variant
  • FAD
  • Fatty acid metabolism
  • Mitochondrion inner membrane
  • Oxidoreductase
  • Phosphoprotein
  • Reference proteome
  • S-nitrosylation
  • Transit peptide
Proteins
Displaying all 2 entries
UniProt Protein Name
P49748
B3KPA6
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000072778

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
K09479
Name
very long chain acyl-CoA dehydrogenase [EC:1.3.8.9]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 112 in total
DO ID Disease Name Source
DOID:0050700 cardiomyopathy
DOID:0050747 obsolete lymphoplasmacytic lymphoma
DOID:0050811 congenital adrenal hyperplasia
DOID:0050820 atrioventricular block
DOID:0060067 Pearson syndrome
DOID:0060262 gallbladder disease
DOID:0060295 complement component 2 deficiency
DOID:0060574 von Willebrand's disease 2
DOID:0060674 catecholaminergic polymorphic ventricular tachycardia
DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1
The Human Phenotype Ontology
Displaying entries 41 - 50 of 62 in total
HPO ID HPO Term
HP:0002876 Episodic tachypnea
HP:0002901 Hypocalcemia
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0003075 Hypoproteinemia
HP:0003215 Dicarboxylic aciduria
HP:0003234 Decreased circulating carnitine concentration
HP:0003236 Elevated circulating creatine kinase concentration
HP:0003394 Muscle spasm
HP:0003552 Muscle stiffness
HP:0003593 Infantile onset
Displaying all 2 entries
Disease ID Disease Name
ORPHA:26793
  • very long chain acyl-CoA dehydrogenase deficiency
OMIM:201475
  • very long chain acyl-CoA dehydrogenase deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000377
Gene Name
acyl-CoA dehydrogenase, very long chain

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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