ACACA Chromosome 17

Acetyl-CoA carboxylase alpha
7 variants 7 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Acetyl-CoA carboxylase family
Locus Type
gene with protein product
Location
17q12
Ensembl
ENSG00000278540
Associated Conditions (2)
ACACA-related disorder
Acetyl-CoA: carboxylase deficiency
Key Variants
All Variants (7)
RSID Category Clinical Significance Conditions
RS140628687 Health Risk Conflicting classifications of pathogenicity ACACA-related disorder, ACACA-related disorder
RS200301970 Health Risk Conflicting classifications of pathogenicity ACACA-related disorder, ACACA-related disorder
RS367793824 Health Risk Conflicting classifications of pathogenicity
RS61743749 Health Risk Conflicting classifications of pathogenicity ACACA-related disorder, ACACA-related disorder
RS73982299 Health Risk Conflicting classifications of pathogenicity
RS749657231 Health Risk Pathogenic Acetyl-CoA: carboxylase deficiency, Acetyl-CoA: carboxylase deficiency
RS2544608353 Health Risk Pathogenic/Likely pathogenic Acetyl-CoA: carboxylase deficiency, Acetyl-CoA: carboxylase deficiency
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