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 combined malonic and methylmalonic acidemia. GO annotations related to this gene include acid-thiol ligase activity and malonyl-CoA synthetase activity.
UniProtKB/Swiss-Prot 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. May have some preference toward very-long-chain substrates.