ACSM6

Chr 10

acyl-CoA synthetase medium chain family member 6

Also known as: C10orf129, bA310E22.3

NCBI Gene: 142827ENSG00000173124UniProt: Q6P461

Predicted to enable fatty acid ligase activity and fatty-acyl-CoA synthase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.01
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.01LOEUF
pLI 0.000
Z-score 1.54
OE 0.64 (0.42–1.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.96Z-score
OE missense 0.83 (0.74–0.93)
212 obs / 255.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.42–1.01)
0≤0.351.4
Missense OE?0.83 (0.74–0.93)
0≤0.61.4
Synonymous OE?0.74
0≤1.21.6
LoF obs/exp: 14 / 21.8Missense obs/exp: 212 / 255.0Syn Z: 1.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ACSM6 · 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