ACACA gene

acetyl-CoA carboxylase alpha

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase.

From NCBI Gene:

  • Acetyl-CoA: carboxylase deficiency

From UniProt:

Acetyl-CoA carboxylase 1 deficiency (ACACAD): An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [MIM:613933]

Cytogenetic Location: 17q21, which is the long (q) arm of chromosome 17 at position 21

Molecular Location: base pairs 37,084,992 to 37,406,822 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q21, which is the long (q) arm of chromosome 17 at position 21
  • ACAC
  • ACACAD
  • ACC
  • ACC1
  • ACCA