THEM5

Chr 1

thioesterase superfamily member 5

Also known as: ACOT15

NCBI Gene: 284486ENSG00000196407UniProt: Q8N1Q8OMIM: 615653

Enables long-chain fatty acyl-CoA hydrolase activity. Involved in long-chain fatty-acyl-CoA metabolic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.87
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.87LOEUF
pLI 0.000
Z-score -0.97
OE 1.32 (0.86–1.87)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.23Z-score
OE missense 0.94 (0.82–1.09)
127 obs / 134.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.32 (0.86–1.87)
0≤0.351.4
Missense OE?0.94 (0.82–1.09)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 14 / 10.6Missense obs/exp: 127 / 134.7Syn Z: 0.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

THEM5 · 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