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Beschreibung

Acetyl-CoA carboxylase 1 (UniProt: Q13085, also known as EC: 6.4.1.2, ACC1, ACC-alpha) is encoded by the ACACA (also known as ACAC, ACC1, ACCA) gene (Gene ID: 31) in human. ACC1 is a cytoplasmic protein that is expressed in brain, placental, skeletal muscle, renal, pancreatic and adipose tissues. It is also expressed at low level in pulmonary tissue, but is not detected in the liver. ACC1 can be present as a monomer, homodimer, or homotetramer. It can also form filamentous polymers. Four isoforms of ACC1 have been described that are produced by alternative splicing. It catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids and carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase. The activity of ACC can be controlled at the transcriptional level as well as by small molecule modulators and covalent modification. ACC1 levels are regulated 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. Mutations in ACACA gene can result in ACC1 deficiency and lead to error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth.