Aliases for ACACA Gene
External Ids for ACACA Gene
Previous HGNC Symbols for ACACA Gene
Previous GeneCards Identifiers for ACACA Gene
Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for ACACA Gene
ACACA (Acetyl-CoA Carboxylase Alpha) is a Protein Coding gene. Diseases associated with ACACA include Acetyl-Coa Carboxylase Deficiency and Multiple Carboxylase Deficiency. Among its related pathways are Defects in biotin (Btn) metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include ligase activity and D-alanine-D-alanine ligase activity. An important paralog of this gene is ACACB.
UniProtKB/Swiss-Prot Summary for ACACA Gene
Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis (PubMed:20952656, PubMed:20457939, PubMed:29899443). This is a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA (PubMed:20952656, PubMed:20457939, PubMed:29899443).