 |
Overview |
 |
|
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: Ligase; EC 6.-.-.-; EC 6.2.1.- |
|
Cellular Component: mitochondrion
|
|
Molecular Function: acid-thiol ligase activity; ATP binding
|
|
Biological Process: fatty acid metabolic process; fatty acid biosynthetic process
|
|
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 |
|
|
ACSF3 |
|
|
 |
|
|
|
|
