ALOX12
Chr 17arachidonate 12-lipoxygenase, 12S type
Also known as: 12-LOX, 12S-LOX, LOG12
This gene encodes 12-lipoxygenase, an enzyme that converts polyunsaturated fatty acids like arachidonic acid into bioactive lipid mediators including eicosanoids and lipoxins that regulate platelet function and inflammatory responses. The gene shows very low constraint against loss-of-function variants (LOEUF 1.039), and while genetic variants have been associated with toxoplasmosis susceptibility, no clear Mendelian neurological disorders have been established. Clinical significance in pediatric neurology remains unclear based on current genetic evidence.
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 gain-of-function.
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
ALOX12 · 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