ELOVL5

Chr 6AD

ELOVL fatty acid elongase 5

Also known as: HELO1, SCA38, dJ483K16.1

NCBI Gene: 60481 ENSG00000012660 UniProt: Q9NYP7 OMIM: 611805

This protein catalyzes the rate-limiting step in long-chain polyunsaturated fatty acid elongation, specifically acting on polyunsaturated acyl-CoA substrates to produce very long-chain fatty acids that serve as precursors for membrane lipids and lipid mediators. Mutations cause spinocerebellar ataxia 38, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating that protein function is critical for normal cellular processes.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

ADLOEUF 0.351 OMIM phenotype

Clinical Summary— ELOVL5

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.93). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

2 unique Pathogenic / Likely Pathogenic· 88 VUS of 167 total submissions

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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GeneReview available — ELOVL5

Authoritative clinical overview · Recommended first read

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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

167 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2

VUS88

Likely Benign34

Benign28

Conflicting3

Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	2	0	0	2
Likely Pathogenic	0	0	0	0	0
VUS	6	78	4	0	88
Likely Benign	3	5	19	7	34
Benign	0	2	22	4	28
Conflicting	—				3
Total	9	87	45	11	155

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

9 pathogenic / likely-pathogenic (of 15) ClinVar copy-number / structural variants overlap ELOVL5 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →