ALOX5
Chr 10ADarachidonate 5-lipoxygenase
Also known as: 5-LO, 5-LOX, 5LPG, LOG5
The protein catalyzes the conversion of arachidonic acid to leukotriene A4, the first two steps in leukotriene biosynthesis, and also participates in the synthesis of specialized pro-resolving mediators that have anti-inflammatory effects. Mutations are associated with diminished response to antileukotriene drugs in asthma treatment and susceptibility to atherosclerosis, following an autosomal dominant inheritance pattern. The gene shows high constraint against loss-of-function variants (LOEUF 0.636), indicating that complete loss of function is likely deleterious.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
ALOX5 · 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
External Resources
Links to major genomics databases and tools