ELOVL5
ELOVL Fatty Acid Elongase 5
Gene Information Card
| Symbol | ELOVL5 |
|---|---|
| Full Name | ELOVL Fatty Acid Elongase 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p12.1 |
| NCBI Gene ID | 60481 ncbi.nlm.nih.gov/gene/60481 |
| Ensembl ID | ENSG00000112624 |
| UniProt ID | Q9NYP7 |
| OMIM ID | 611805 |
| HGNC ID | 21318 |
| Aliases | Ssc2, HELO1, dJ483K16.1 |
Description
ELOVL5 encodes a member of the elongation of very long chain fatty acids (ELOVL) protein family. This enzyme catalyzes the first and rate-limiting step of the elongation cycle for long-chain polyunsaturated fatty acids (PUFAs) and very long-chain fatty acids (VLCFAs). It is involved in the biosynthesis of arachidonic acid, docosahexaenoic acid (DHA), and other essential fatty acids. Mutations in ELOVL5 cause spinocerebellar ataxia 38 (SCA38), a neurodegenerative disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia 38 (SCA38) | Loss-of-function mutations in ELOVL5 impair elongation of PUFAs, leading to altered membrane composition and Purkinje cell degeneration. | OMIM #611805; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 16.2 | High |
| Adipose tissue | 12.8 | High |
| Brain | 8.5 | Medium |
| Testis | 7.1 | Medium |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.5 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 9.2 | Neuroblastoma cell line |
| HeLa | 6.7 | Cervical adenocarcinoma cell line |
| HEK293 | 5.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.689G>A (p.Gly230Glu) | Missense | Rare | Loss of function; associated with SCA38 |
| c.694C>T (p.Arg232Cys) | Missense | Rare | Loss of function; associated with SCA38 |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly230Glu, p.Arg232Cys) reduce elongase activity, leading to SCA38.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid elongase activity (GO:0009922) | • unsaturated fatty acid biosynthetic process (GO:0006636) |
| • fatty acid elongation (GO:0034625) | • integral component of membrane (GO:0016021) |
| • endoplasmic reticulum membrane (GO:0005789) |
Pathways
• Fatty acid elongation (Reactome: R-HSA-2046106)
• Biosynthesis of unsaturated fatty acids (KEGG: hsa01040)
• Alpha-linolenic acid metabolism (KEGG: hsa00592)
Protein Summary
ELOVL5 is a 299-amino acid transmembrane protein localized to the endoplasmic reticulum. It functions as a fatty acid elongase, specifically elongating C18-20 polyunsaturated fatty acids. The protein contains a histidine-rich motif essential for catalytic activity. Defects in ELOVL5 disrupt the synthesis of very long-chain fatty acids, contributing to neurodegenerative disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELOVL5 Knockout HEK293 Cell Line | EDJ-KQ3092 | Human | 60481 | Details Get a Quote |
| ELOVL5 Knockout A-549 Cell Line | EDJ-KQ24403 | Human | 60481 | Details Get a Quote |
| ELOVL5 Knockout HCT 116 Cell Line | EDJ-KQ24404 | Human | 60481 | Details Get a Quote |
| ELOVL5 Knockout HeLa Cell Line | EDJ-KQ24405 | Human | 60481 | Details Get a Quote |
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