ACADSB Has greatest activity toward short branched chain acyl- CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl- CoA as substrate and may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent. Defects in ACADSB are the cause of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD); also known as 2-methylbutyryl-CoA dehydrogenase deficiency or 2- methylbutyryl glycinuria. SBCADD is an autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2-methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features. Belongs to the acyl-CoA dehydrogenase family. Note: This description may include information from UniProtKB.
Protein type: Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 1.3.8.5; Lipid Metabolism - fatty acid; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: 7|7 F3
Cellular Component:  mitochondrion
Molecular Function:  acyl-CoA dehydrogenase activity; electron transfer activity; flavin adenine dinucleotide binding; oxidoreductase activity; oxidoreductase activity, acting on the CH-CH group of donors; short-branched-chain-acyl-CoA dehydrogenase activity
Biological Process:  acyl-CoA metabolic process; fatty acid metabolic process; lipid metabolic process; oxidation-reduction process
Reference #:  Q9DBL1 (UniProtKB)
Alt. Names/Synonyms: 1300003O09Rik; 2-MEBCAD; 2-methyl branched chain acyl-CoA dehydrogenase; 2-methylbutyryl-CoA dehydrogenase; 2-methylbutyryl-coenzyme A dehydrogenase; Acadsb; ACDSB; acyl-Coenzyme A dehydrogenase, short/branched chain; BB066609; SBCAD; Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
Gene Symbols: Acadsb
Molecular weight: 47,874 Da
Basal Isoelectric point: Predict pI for various phosphorylation states
Select Structure to View Below

ACADSB

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene