ACSM1
Chr 16acyl-CoA synthetase medium chain family member 1
Also known as: BUCS1, MACS1
ACSM1 encodes a mitochondrial matrix enzyme that activates fatty acids by conjugating them with coenzyme A, catalyzing the first step in fatty acid metabolism and also activating medium-chain fatty acids and xenobiotics like benzoate. The gene shows extremely low constraint against loss-of-function variants (pLI near zero, LOEUF >1), and no established human disease associations have been reported to date. This gene appears to be tolerant of functional variation in the human population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ACSM1 · 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