ACSL4
Chr XXLDacyl-CoA synthetase long chain family member 4
Also known as: ACS4, FACL4, LACS4, MRX63, MRX68, XLID63
The ACSL4 protein converts long-chain fatty acids (particularly arachidonate) to acyl-CoA esters for lipid biosynthesis and fatty acid degradation, and plays a role in insulin secretion and ferroptosis regulation. Mutations cause X-linked intellectual disability and may contribute to Alport syndrome with sensorineural hearing loss. This gene shows high constraint against loss-of-function variants, indicating that complete loss of protein function is likely deleterious.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ACSL4 · 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