ALOX15

Chr 17

arachidonate 15-lipoxygenase

Also known as: 12-LOX, 15-LOX, 15-LOX-1, LOG15

NCBI Gene: 246ENSG00000161905UniProt: P16050OMIM: 152392

The protein is a lipoxygenase enzyme that catalyzes the peroxidation of polyunsaturated fatty acids to generate bioactive lipid mediators including eicosanoids, hepoxilins, and specialized pro-resolving mediators that regulate inflammation and immunity. Mutations in this gene cause ichthyosis with hypotrichosis, which follows autosomal recessive inheritance and primarily affects the skin and hair follicles. The gene shows no significant constraint against loss-of-function variants (pLI near zero, LOEUF 1.338).

OMIMResearchSummary from RefSeq, UniProt
GOFmechanismLOEUF 1.34
Clinical Summary— ALOX15
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
23 unique Pathogenic / Likely Pathogenic· 107 VUS of 156 total submissions
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.34LOEUF
pLI 0.000
Z-score -0.05
OE 1.01 (0.77–1.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.03Z-score
OE missense 1.00 (0.92–1.08)
378 obs / 379.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.01 (0.77–1.34)
0≤0.351.4
Missense OE1.00 (0.92–1.08)
0≤0.61.4
Synonymous OE1.15
0≤1.21.6
LoF obs/exp: 35 / 34.7Missense obs/exp: 378 / 379.5Syn Z: -1.49
DN
0.5378th %ile
GOF
0.7028th %ile
LOF
0.3260th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

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

156 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic1
VUS107
Likely Benign12
Benign9
22
Pathogenic
1
Likely Pathogenic
107
VUS
12
Likely Benign
9
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
22
0
22
Likely Pathogenic
0
0
1
0
1
VUS
1
91
15
0
107
Likely Benign
0
8
2
2
12
Benign
0
4
1
4
9
Total1103416151

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ALOX15 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients