ELOVL5

Chr 6

ELOVL fatty acid elongase 5

Also known as: HELO1, SCA38, dJ483K16.1

NCBI Gene: 60481ENSG00000012660UniProt: Q9NYP7

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia 38

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
1
Active trials
60
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.35
LOEUF
—
Mechanism
📖
GeneReview available — ELOVL5
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.35LOEUF
pLI 0.933
Z-score 3.74
OE 0.14 (0.06–0.35)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.52Z-score
OE missense 0.69 (0.59–0.80)
127 obs / 185.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.14 (0.06–0.35)
0≤0.351.4
Missense OE?0.69 (0.59–0.80)
0≤0.61.4
Synonymous OE?0.77
0≤1.21.6
LoF obs/exp: 3 / 21.8Missense obs/exp: 127 / 185.0Syn Z: 1.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ELOVL5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients