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Protein Page:
ACSF3 (human)

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; very-long-chain-fatty-acid-CoA ligase activity
Biological Process: fatty acid biosynthetic process; fatty acid metabolic 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.

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