ACSM3
Chr 16acyl-CoA synthetase medium chain family member 3
Also known as: SA, SAH
ACSM3 encodes a mitochondrial enzyme that catalyzes the activation of medium-chain fatty acids by CoA, representing the first step in fatty acid metabolism with particular preference for isobutyrate and other 2-6 carbon fatty acids. The gene is not constrained against loss-of-function variants and currently has no established Mendelian disease associations in pediatric neurology. While implicated in IgA glomerulonephritis and as a biomarker for ulcerative colitis, pathogenic variants causing neurological phenotypes have not been reported.
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
134 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 | 5 | 1 | 14 | 0 | 20 |
Likely Pathogenic | 0 | 1 | 0 | 0 | 1 |
VUS | 1 | 73 | 6 | 0 | 80 |
Likely Benign | 0 | 3 | 0 | 2 | 5 |
Benign | 0 | 0 | 1 | 0 | 1 |
Conflicting | — | 1 | |||
| Total | 6 | 78 | 21 | 2 | 108 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ACSM3 · 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