FADS6
Chr 17fatty acid desaturase 6
Also known as: FP18279
Predicted to enable oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water. Predicted to be involved in lipid metabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— FADS6
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
13 Pathogenic / Likely Pathogenic· 62 VUS of 80 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.72LOEUF
pLI 0.000
Z-score -0.35
OE 1.11 (0.72–1.72)
Highly tolerant — LoF variants common in population
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.29Z-score
OE missense 0.94 (0.84–1.06)
196 obs / 208.0 exp
Mild missense constraint
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.11 (0.72–1.72)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.84–1.06)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.88
0≤1.21.6
LoF obs/exp: 13 / 11.7Missense obs/exp: 196 / 208.0Syn Z: 0.91
ClinVar Variant Classifications
80 submitted variants in ClinVar
Classification Summary
Pathogenic12
Likely Pathogenic1
VUS62
Likely Benign5
12
Pathogenic
1
Likely Pathogenic
62
VUS
5
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 12 | 0 | 12 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 60 | 2 | 0 | 62 |
Likely Benign | 0 | 5 | 0 | 0 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 65 | 15 | 0 | 80 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FADS6 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
FATTY ACID DESATURASE 6; FADS6
MIM #620577 · *
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 →Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.
Li S et al.·J Adv Res
2026
Mitochondrial lipidome's fatty acid profile and peroxidation index are programmed tissue-specific traits.
Mota-Martorell N et al.·Redox Biol
2025
Genetic heterogeneity and mutational signature in Chinese Epstein-Barr virus-positive diffuse large B-cell lymphoma.
Liu F et al.·PLoS One
2018
Inhibition of Δ24-dehydrocholesterol reductase activates pro-resolving lipid mediator biosynthesis and inflammation resolution.
Körner A et al.·Proc Natl Acad Sci U S A
2019
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Cross-species metabolomic profiling reveals phosphocholine-mediated liver protection from cold and ischemia/reperfusion.
Zhang L et al.·Am J Transplant
2024
Contribution of elovl5a to Docosahexaenoic Acid (DHA) Synthesis at the Transcriptional Regulation Level in Common Carp, Cyprinus carpio
Zhang H et al.·Animals (Basel)
2024
Molecular Cloning, Characterization, Tissue-Specific Transcription, and Nutritional Regulation of FADS Genes by Dietary Curcumin in Chicken, Gallus gallus.
Dumlu B et al.·Lipids
2026
Research Note: Identification of core promoter region of the polyunsaturated fatty acid synthesis-related gene family in chicken
Liu Y et al.·Poult Sci
2023
Lipidomics and Transcriptome Reveal the Effects of Feeding Systems on Fatty Acids in Yak's Meat
Xiong L et al.·Foods
2022
Consensus mutagenesis and computational simulation provide insight into the desaturation catalytic mechanism for delta 6 fatty acid desaturase.
Cui J et al.·Biochem Biophys Res Commun
2022Functional
Genome-wide comparative identification and analysis of membrane-FADS-like superfamily genes in freshwater economic fishes
Zhang Y et al.·FEBS Open Bio
2023
Top 9 full-text resultsSearch PubTator3 ↗
External Resources
Links to major genomics databases and tools