ACADS is a homotetramer mitochondrial flavoprotein, which is a member of the acyl CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta oxidation pathway. Mutations in this gene have been associated with Short Chain Acyl CoA Dehydrogenase Deficiency.
Subcellular Location:
Mitochondrion matrix.
DISEASE:
Defects in ACADS are the cause of acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]. It is an autosomal recessive disorder resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults.
Similarity:
Belongs to the acyl-CoA dehydrogenase family.
SWISS:
P16219
Gene ID:
35
Database links:
Entrez Gene: 35 Human
Entrez Gene: 11409 Mouse
Entrez Gene: 64304 Rat
Omim: 606885 Human
SwissProt: P16219 Human
SwissProt: Q07417 Mouse
SwissProt: P15651 Rat
Unigene: 507076 Human
Unigene: 18759 Mouse
Unigene: 1167 Rat
|
|
