| ELOVL5 Gene | |
|---|---|
| Symbol | ELOVL5 |
| Full Name | ELOVL Fatty Acid Elongase 5 |
| Location | 6p12.1 |
| NCBI Gene ID | [60481](https://www.ncbi.nlm.nih.gov/gene/60481) |
| OMIM | [611802](https://www.omim.org/entry/611802) |
| Ensembl | [ENSG00000012660](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127083) |
| UniProt | [Q9NYP7](https://www.uniprot.org/uniprot/Q9NYP7) |
| Associated Diseases | Spinocerebellar ataxia, Neurodegeneration, Macular degeneration |
ELOVL5 is a human gene whose product eLOVL5 (Elongation of Very Long Chain Fatty Acids 5) is an endoplasmic reticulum membrane-bound enzyme that catalyzes the rate-limiting step in the elongation of polyunsaturated fatty acids (PUFAs). ELOVL5 specifically elongates C18-C22 fatty acids, playing a crucial role in the biosynthesis of long-chain omega-3 and omega-6 fatty acids including docosahexaenoic acid (DHA) and arachidonic acid (AA) [1]. Variants in ELOVL5 have been implicated in Spinocerebellar Ataxia 38 (SCA38), Neurodegenerative Disease Risk, Metabolic Dysfunction. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
ELOVL5 (Elongation of Very Long Chain Fatty Acids 5) is an endoplasmic reticulum membrane-bound enzyme that catalyzes the rate-limiting step in the elongation of polyunsaturated fatty acids (PUFAs). ELOVL5 specifically elongates C18-C22 fatty acids, playing a crucial role in the biosynthesis of long-chain omega-3 and omega-6 fatty acids including docosahexaenoic acid (DHA) and arachidonic acid (AA) [1].
The enzyme is particularly important in the brain, where DHA and other very-long-chain fatty acids are essential components of neuronal membranes and myelin. ELOVL5-mediated fatty acid elongation supports:
Heterozygous mutations in ELOVL5 cause autosomal dominant spinocerebellar ataxia type 38. Clinical features include:
The pathogenic mechanism involves impaired fatty acid elongation leading to altered membrane composition in Purkinje cells and photoreceptors.
ELOVL5 polymorphisms have been associated with:
Reduced ELOVL5 activity contributes to:
ELOVL5 is expressed in multiple tissues with brain-relevant localization:
During development, ELOVL5 expression increases during periods of active myelination and synaptogenesis [5].
For ELOVL5-related disorders:
Experimental approaches include: