ACSM2A
Chr 16acyl-CoA synthetase medium chain family member 2A
Also known as: A-923A4.1, ACSM2
The protein encoded by this gene is a mitochondrial acyl-coenzyme A synthetase that activates medium-chain fatty acids (C4-C10) for metabolism and participates in detoxification of xenobiotics like benzoate. Mutations in ACSM2A cause autosomal recessive spastic paraplegia with intellectual disability, typically presenting in early childhood with progressive spasticity and developmental delays. The gene shows low constraint against loss-of-function variants (high LOEUF score), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
ACSM2A · 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