ACSF3

ACSF3 is a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malo

Full Name

Acyl-CoA Synthetase Family Member 3

Function

Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates.

Biological Process

Fatty acid biosynthetic process
Fatty acid metabolic process
Long-chain fatty-acyl-CoA biosynthetic process
Malonate catabolic process

Cellular Location

Mitochondrion

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.