ACSF3 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. Defects in ACSF3 are the cause of 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. Belongs to the ATP-dependent AMP-binding enzyme family. Note: This description may include information from UniProtKB.
Protein type: EC 6.-.-.-; EC 6.2.1.-; Ligase
Chromosomal Location of Human Ortholog: 16q24.3
Cellular Component:  mitochondrial matrix; mitochondrion
Molecular Function:  acid-thiol ligase activity; ATP binding; malonyl-CoA synthetase activity; very long-chain fatty acid-CoA ligase activity
Biological Process:  fatty acid biosynthetic process; fatty acid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; malonate catabolic process
Disease: Combined Malonic And Methylmalonic Aciduria
Reference #:  Q4G176 (UniProtKB)
Alt. Names/Synonyms: ACSF3; acyl-CoA synthetase family member 3; Acyl-CoA synthetase family member 3, mitochondrial; FLJ39242
Gene Symbols: ACSF3
Molecular weight: 64,130 Da
Basal Isoelectric point: 8.64  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene