ELOVL5 Chromosome 6
ELOVL fatty acid elongase 5
Upload your DNA to see your personal genotypes for variants in ELOVL5.
What This Gene Does
This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Gene Info
Gene Group
ELOVL fatty acid elongase family
Locus Type
gene with protein product
Location
6p12.1
Ensembl
ENSG00000012660
Associated Conditions (2)
Inborn genetic diseases
Spinocerebellar ataxia type 38
Key Variants
RS1028445166
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146646780
Conflicting classifications of pathogenicity
Health Risk
RS41273880
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 38, Spinocerebellar ataxia type 38
Health Risk
RS587777670
Pathogenic
Spinocerebellar ataxia type 38, Spinocerebellar ataxia type 38
Health Risk
RS587777671
Pathogenic
Spinocerebellar ataxia type 38, Spinocerebellar ataxia type 38
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1028445166 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146646780 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS41273880 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 38, Spinocerebellar ataxia type 38 |
| RS587777670 | Health Risk | Pathogenic | Spinocerebellar ataxia type 38, Spinocerebellar ataxia type 38 |
| RS587777671 | Health Risk | Pathogenic | Spinocerebellar ataxia type 38, Spinocerebellar ataxia type 38 |