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HELO1 / ELOVL5 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.
Gene Name: | ELOVL fatty acid elongase 5 |
Synonyms: | ELOVL5, ELOVL FA elongase 5, ELOVL fatty acid elongase 5, Fatty acid elongase 1, RP3-483K16.1, DJ483K16.1, HELO1 |
Target Sequences: | NM_021814 NP_068586.1 Q9NYP7 |
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