What is the ACAT1 gene?
Mitochondrial acetoacetyl-CoA thiolase supporting ketone-body utilization and isoleucine catabolic flux.
How ACAT1 affects metabolism
When ACAT1-related function is shifted, the practical effect is interpreted through fatty-acid oxidation, mitochondrial transport, organic-acid handling, or high-demand energy metabolism. This does not mean the pathway is active or impaired right now; it means the gene can help prioritize what to check next.
What happens when ACAT1 is altered
Altered ACAT1 signal should be treated as a DNA-based tendency, not a diagnosis. 2 claims currently pass the report-use gate. The useful question is whether symptoms, labs, and lifestyle context line up with the pathway signal.
Curated SNP evidence for ACAT1
These SNPs come from the approved study-level evidence model. Each claim is scored from curated study rows, then gated before it can influence pathway scoring.
Evidence-backed report connection
ACAT1 currently has 2 curated SNPs, 2 claim-level scores, and 2 claims eligible for pathway scoring.
Open the sample reportrs199524907ACAT1 c.473A>G / Asn158Ser1 claims · 2 study rows
enzyme activity · GG or compound-heterozygous ACAT1 deficiency context
Mitochondrial acetoacetyl-CoA thiolase activity tendency
rs199524907 G / ACAT1 c.473A>G / p.Asn158Ser is associated with lower mitochondrial acetoacetyl-CoA thiolase activity tendency and impaired ketone/isoleucine catabolic handling in recessive or compound-heterozygous beta-ketothiolase deficiency contexts.
ACAT1 rs199524907 G is staged as a recessive beta-ketothiolase deficiency allele affecting mitochondrial acetoacetyl-CoA thiolase activity.
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rs532190594ACAT1 c.622C>T / Arg208Ter1 claims · 3 study rows
enzyme activity · TT or compound-heterozygous ACAT1 deficiency context
Mitochondrial acetoacetyl-CoA thiolase activity tendency
rs532190594 T / ACAT1 c.622C>T / p.Arg208Ter is associated with lower mitochondrial acetoacetyl-CoA thiolase activity tendency and impaired ketone/isoleucine catabolic handling in recessive or compound-heterozygous deficiency contexts.
ACAT1 rs532190594 T is staged as a recessive beta-ketothiolase deficiency allele affecting mitochondrial acetoacetyl-CoA thiolase activity.
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Common symptoms people report
- low energy under fasting, illness, or exercise
- slow recovery after exertion
- fatigue that feels out of proportion to workload
Biomarkers to validate
CBC, ferritin, and thyroid context
Rules out common non-DNA explanations for low energy.
Glucose and HbA1c
Checks whether fuel handling is adding pressure.
Organic acids or acylcarnitines when available
Adds more specific mitochondrial and fatty-acid oxidation context.
Where DNA analysis helps
DNA helps decide whether ACAT1 deserves attention inside the broader Mitochondrial energy pathway. It is most useful when combined with biomarkers instead of used as a standalone answer.
Example interpretation
ACAT1 may add context to fatty-acid oxidation, mitochondrial transport, organic-acid handling, or high-demand energy metabolism, especially when its SNP evidence lines up with other genes in the same pathway.
Suggested validation: CBC, ferritin, and thyroid context.
What to do next
- Review the Mitochondrial energy pathway result before interpreting ACAT1 on its own.
- Use relevant biomarkers to confirm whether this DNA tendency is visible in current biology.
- Treat supplement or nutrition decisions as follow-up steps only after the pattern fits symptoms or labs.
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