ELOVL1
Chr 1ADARELOVL fatty acid elongase 1
Also known as: CGI-88, IKSHD, Ssc1
ELOVL1 encodes a fatty acid elongase that catalyzes the rate-limiting step in very long-chain fatty acid synthesis, particularly important for producing C24:0 and C24:1 sphingolipids essential for membrane lipids. Mutations cause ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.462), reflecting its important role in lipid metabolism affecting skin, nervous system, and craniofacial development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
ELOVL1 · 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