ELOVL4 Chromosome 6
ELOVL fatty acid elongase 4
Upload your DNA to see your personal genotypes for variants in ELOVL4.
What This Gene Does
This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ELOVL fatty acid elongase family
Locus Type
gene with protein product
Location
6q14.1
Ensembl
ENSG00000118402
Associated Conditions (8)
Stargardt disease 3
Spinocerebellar ataxia type 34
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Inborn genetic diseases
ELOVL4-related disorder
Spastic ataxia
ELOVL4-related ataxia
Retinal dystrophy
Key Variants
RS148018494
Conflicting classifications of pathogenicity
Stargardt disease 3, Spinocerebellar ataxia type 34, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Health Risk
RS1554162016
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 34, ELOVL4-related disorder, Spinocerebellar ataxia type 34
Health Risk
RS1561982219
Conflicting classifications of pathogenicity
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Health Risk
RS189898207
Conflicting classifications of pathogenicity
Health Risk
RS199860277
Conflicting classifications of pathogenicity
ELOVL4-related disorder, ELOVL4-related disorder
Health Risk
RS200915130
Conflicting classifications of pathogenicity
Stargardt disease 3, Inborn genetic diseases, Stargardt disease 3
Health Risk
RS201014417
Conflicting classifications of pathogenicity
Stargardt disease 3, ELOVL4-related disorder, Stargardt disease 3
Health Risk
RS2127698493
Conflicting classifications of pathogenicity
Health Risk
RS2532967975
Conflicting classifications of pathogenicity
Stargardt disease 3, Stargardt disease 3
Health Risk
RS769435926
Conflicting classifications of pathogenicity
Stargardt disease 3, Stargardt disease 3
Health Risk
RS886061802
Conflicting classifications of pathogenicity
Stargardt disease 3, Stargardt disease 3
Health Risk
RS1554162178
Likely pathogenic
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148018494 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 3, Spinocerebellar ataxia type 34, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |
| RS1554162016 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 34, ELOVL4-related disorder, Spinocerebellar ataxia type 34 |
| RS1561982219 | Health Risk | Conflicting classifications of pathogenicity | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |
| RS189898207 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199860277 | Health Risk | Conflicting classifications of pathogenicity | ELOVL4-related disorder, ELOVL4-related disorder |
| RS200915130 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 3, Inborn genetic diseases, Stargardt disease 3 |
| RS201014417 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 3, ELOVL4-related disorder, Stargardt disease 3 |
| RS2127698493 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2532967975 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 3, Stargardt disease 3 |
| RS769435926 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 3, Stargardt disease 3 |
| RS886061802 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 3, Stargardt disease 3 |
| RS1554162178 | Health Risk | Likely pathogenic | — |
| RS1554162524 | Health Risk | Likely pathogenic | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, ELOVL4-related disorder, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |
| RS1582043186 | Health Risk | Likely pathogenic | — |
| RS2127698054 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |
| RS2127703554 | Health Risk | Likely pathogenic | — |
| RS2532974649 | Health Risk | Likely pathogenic | ELOVL4-related ataxia, ELOVL4-related ataxia |
| RS1057524307 | Health Risk | Pathogenic | — |
| RS1131690770 | Health Risk | Pathogenic | Stargardt disease 3, Retinal dystrophy, Stargardt disease 3 |
| RS1131690772 | Health Risk | Pathogenic | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |
| RS1131692036 | Health Risk | Pathogenic | Spinocerebellar ataxia type 34, Spinocerebellar ataxia type 34 |
| RS1263687624 | Health Risk | Pathogenic | — |
| RS1774342365 | Health Risk | Pathogenic | — |
| RS2127698518 | Health Risk | Pathogenic | — |
| RS2127698531 | Health Risk | Pathogenic | — |
| RS2532971404 | Health Risk | Pathogenic | — |
| RS2532980755 | Health Risk | Pathogenic | — |
| RS587776613 | Health Risk | Pathogenic | Stargardt disease 3, Stargardt disease 3 |
| RS587777598 | Health Risk | Pathogenic | Spinocerebellar ataxia type 34, Stargardt disease 3, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |
| RS746047636 | Health Risk | Pathogenic | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |
| RS769438485 | Health Risk | Pathogenic | — |
| RS104893946 | Health Risk | Pathogenic/Likely pathogenic | Stargardt disease 3, Stargardt disease 3 |
| RS1554162301 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia type 34, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Stargardt disease 3 |
| RS387906916 | Health Risk | Pathogenic/Likely pathogenic | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |