Recombinant Human Acyl-CoA synthetase family member 3, mitochondrial (ACSF3)

Uniprot Id

Q4G176

Target Species

Human

Target Name

ACSF3

Target Full Name

Malonate--CoA ligase ACSF3, mitochondrial

Target Function

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.

Target Involvement

Combined malonic and methylmalonic aciduria (CMAMMA)

Target Subcellular Location

Mitochondrion.

Target Protein Families

ATP-dependent AMP-binding enzyme family

Target Synonyms

ACSF3; PSEC0197Malonate--CoA ligase ACSF3; mitochondrial; EC 6.2.1.n3; Acyl-CoA synthetase family member 3

Target Background

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.