ACACA Chromosome 17
Acetyl-CoA carboxylase alpha
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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
RS140628687
Conflicting classifications of pathogenicity
ACACA-related disorder, ACACA-related disorder
Health Risk
RS200301970
Conflicting classifications of pathogenicity
ACACA-related disorder, ACACA-related disorder
Health Risk
RS367793824
Conflicting classifications of pathogenicity
Health Risk
RS61743749
Conflicting classifications of pathogenicity
ACACA-related disorder, ACACA-related disorder
Health Risk
RS73982299
Conflicting classifications of pathogenicity
Health Risk
RS749657231
Pathogenic
Acetyl-CoA: carboxylase deficiency, Acetyl-CoA: carboxylase deficiency
Health Risk
RS2544608353
Pathogenic/Likely pathogenic
Acetyl-CoA: carboxylase deficiency, Acetyl-CoA: carboxylase deficiency
Health Risk
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 |