ACSM4

Chr 12

acyl-CoA synthetase medium chain family member 4

Predicted to enable decanoate-CoA 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
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.24
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.24LOEUF
pLI 0.000
Z-score 0.47
OE 0.91 (0.681.24)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.91Z-score
OE missense 0.86 (0.780.95)
274 obs / 319.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.91 (0.681.24)
00.351.4
Missense OE?0.86 (0.780.95)
00.61.4
Synonymous OE?0.85
01.21.6
LoF obs/exp: 30 / 32.9Missense obs/exp: 274 / 319.7Syn Z: 1.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ACSM4 · 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

No active trials found for this gene.

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