ACSM1

Chr 16

acyl-CoA synthetase medium chain family member 1

Also known as: BUCS1, MACS1

Enables benzoate-CoA ligase activity; decanoate-CoA ligase activity; and long-chain fatty acid-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.07
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?
1.07LOEUF
pLI 0.000
Z-score 1.21
OE 0.78 (0.571.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.20Z-score
OE missense 0.97 (0.881.06)
320 obs / 330.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.571.07)
00.351.4
Missense OE?0.97 (0.881.06)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 27 / 34.7Missense obs/exp: 320 / 330.4Syn Z: 0.64

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ACSM1 · 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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