acyl-CoA dehydrogenase short/branched chain

Summary
Gene Symbol
  • ACADSB
Aliases
  • ACAD7
  • SBCAD
Organism
Homo sapiens (human)
External Links
NCBI Gene
36
HGNC
91
KEGG Gene ID
hsa:36
PubChem
36
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Disease variant
  • FAD
  • Fatty acid metabolism
  • Mitochondrion
  • Oxidoreductase
  • Phosphoprotein
  • Reference proteome
  • Transit peptide
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A0S2Z3P9
  • 2-methyl branched chain acyl-CoA dehydrogenase
  • 2-methylbutyryl-coenzyme A dehydrogenase
P45954
  • 2-methyl branched chain acyl-CoA dehydrogenase
  • 2-methylbutyryl-coenzyme A dehydrogenase
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
fatty acid metabolic process
isoleucine catabolic process
GO Hierarchy
Human Protein Atlas
ENSG00000196177

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
K09478
Name
short-chain 2-methylacyl-CoA dehydrogenase [EC:1.3.8.5]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 23 in total
DO ID Disease Name Source
DOID:0060336 3-methylglutaconic aciduria
DOID:0060810 syndromic X-linked intellectual disability type 10
DOID:0080154 short chain acyl-CoA dehydrogenase deficiency
DOID:10763 hypertension
DOID:10825 essential hypertension
DOID:10907 microcephaly
DOID:1142 alternating exotropia
DOID:1143 exotropia
DOID:1168 familial hyperlipidemia
DOID:11832 visual epilepsy
The Human Phenotype Ontology
Displaying entries 1 - 10 of 14 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000252 Microcephaly
HP:0000577 Exotropia
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001254 Lethargy
HP:0001263 Global developmental delay
HP:0001270 Motor delay
HP:0001943 Hypoglycemia
HP:0002045 Hypothermia
Displaying 1 entry
Disease ID Disease Name
OMIM:610006
  • 2-methylbutyryl-CoA dehydrogenase deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001132
Gene Name
acyl-CoA dehydrogenase, short/branched 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