ACACA
Chr 17ARacetyl-CoA carboxylase alpha
Also known as: ACAC, ACACAD, ACACalpha, ACC, ACC1, ACCA, ACCalpha, Acac1
Acetyl-CoA carboxylase alpha catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. Biallelic mutations cause acetyl-CoA carboxylase deficiency with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants, indicating that functional copies are critical for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Extremely missense-constrained (top ~0.01%)
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 35 | 0 | 36 |
Likely Pathogenic | 0 | 1 | 5 | 0 | 6 |
VUS | 7 | 188 | 19 | 3 | 217 |
Likely Benign | 1 | 4 | 71 | 77 | 153 |
Benign | 2 | 2 | 24 | 5 | 33 |
Conflicting | — | 4 | |||
| Total | 10 | 196 | 154 | 85 | 449 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ACACA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools