ELOVL1 Chromosome 1
ELOVL fatty acid elongase 1
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What This Gene Does
Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and sphingolipid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"MicroRNA protein coding host genes|ELOVL fatty acid elongase family"
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000066322
Associated Conditions (4)
Ichthyotic keratoderma
spasticity
hypomyelination
and dysmorphic facial features
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1570486718 | Health Risk | Conflicting classifications of pathogenicity | Ichthyotic keratoderma, spasticity, hypomyelination |
| RS2153923212 | Health Risk | Pathogenic | Ichthyotic keratoderma, spasticity, hypomyelination |