| Entrez Gene ID | 60481 |
|---|---|
| Official Gene Symbol | ELOVL5 (GeneCards) |
| Full name | ELOVL fatty acid elongase 5 |
| Location | 6p12.1 |
| Other ids | Vega : OTTHUMG00000016249 MIM : 611805 HGNC : HGNC:21308 Ensembl : ENSG00000012660 |
| Other names | HELO1, SCA38, dJ483K16.1 |
| Summary | 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] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 8974 | 60481 | ELOVL5 | 6 | 53302013 | 53302013 | Asymptomatic | HiSeq X Ten |
| 10171 | 60481 | ELOVL5 | 6 | 53247496 | 53247496 | Cockayne syndrome | HiSeq X Ten |