ELOVL5
Chr 6ADELOVL fatty acid elongase 5
Also known as: HELO1, SCA38, dJ483K16.1
This protein catalyzes the rate-limiting step in long-chain polyunsaturated fatty acid elongation, specifically acting on polyunsaturated acyl-CoA substrates to produce very long-chain fatty acids that serve as precursors for membrane lipids and lipid mediators. Mutations cause spinocerebellar ataxia 38, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating that protein function is critical for normal cellular processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ELOVL5 · 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