Aliases for ACSF3 Gene
External Ids for ACSF3 Gene
Previous GeneCards Identifiers for ACSF3 Gene
This gene encodes 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 malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]
GeneCards Summary for ACSF3 Gene
ACSF3 (Acyl-CoA Synthetase Family Member 3) is a Protein Coding gene. Diseases associated with ACSF3 include Combined Malonic And Methylmalonic Aciduria and 3-Methylcrotonyl-Coa Carboxylase Deficiency. Among its related pathways are Valine, leucine and isoleucine degradation and Fatty Acyl-CoA Biosynthesis. Gene Ontology (GO) annotations related to this gene include acid-thiol ligase activity and malonyl-CoA synthetase activity. An important paralog of this gene is ACSM4.
UniProtKB/Swiss-Prot Summary for ACSF3 Gene
Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester (PubMed:21846720, PubMed:21841779). May have some preference toward very-long-chain substrates (PubMed:17762044).