Gene Symbol | ELOVL5 |
Entrez Gene ID | 60481 |
Full Name | ELOVL fatty acid elongase 5 |
Synonyms | HELO1,SCA38,dJ483K16.1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Spinocerebellar ataxia 38, 615957 (3) |