ACSF3
Function
Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester (PubMed:21841779, PubMed:21846720). May have some preference toward very-long-chain substrates (PubMed:17762044).
Involvement in disease
Combined malonic and methylmalonic aciduria
CMAMMA
A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ATP-dependent AMP-binding enzyme family.
Cellular localization
- Mitochondrion
Alternative names
PSEC0197, ACSF3, Acyl-CoA synthetase family member 3