ELOVL3

Chr 10

ELOVL fatty acid elongase 3

Also known as: CIG-30, CIG30

NCBI Gene: 83401ENSG00000119915UniProt: Q9HB03

This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013]

ResearchGenerating clinical summary…
0
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.04
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.04LOEUF
pLI 0.019
Z-score 1.51
OE 0.45 (0.22–1.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.75Z-score
OE missense 0.83 (0.72–0.96)
129 obs / 155.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.22–1.04)
0≤0.351.4
Missense OE?0.83 (0.72–0.96)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 4 / 8.8Missense obs/exp: 129 / 155.1Syn Z: 0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ELOVL3 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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