Gene:
ACAT1
acetyl-CoA acetyltransferase 1

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  ACAT; acetoacetyl Coenzyme A thiolase
Alternate Symbols:  THIL
PharmGKB Accession Id: PA24431

Details

Cytogenetic Location: chr11 : q22.3 - q22.3
GP mRNA Boundary: chr11 : 107992258 - 108018895
GP Gene Boundary: chr11 : 107982258 - 108021895
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. Formation of Acetoacetic Acid - (Reactome via Pathway Interaction Database)
  2. Isoleucine catabolism - (Reactome via Pathway Interaction Database)
  3. Utilization of Ketone Bodies - (Reactome via Pathway Interaction Database)

Publications related to ACAT1: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Effect of CYP2D6 polymorphism on pharmacokinetics of a novel ACAT inhibitor, pactimibe and its unique metabolite, R-125528. International journal of clinical pharmacology and therapeutics. 2008. Kotsuma M, et al. PubMed

LinkOuts

Entrez Gene:
38
OMIM:
203750
607809
UCSC Genome Browser:
NM_000019
RefSeq RNA:
NM_000019
RefSeq Protein:
NP_000010
RefSeq DNA:
AC_000054
AC_000143
NC_000011
NG_009888
NT_033899
NW_001838042
NW_925173
UniProtKB:
THIL_HUMAN (P24752)
Ensembl:
ENSG00000075239
GenAtlas:
ACAT1
GeneCard:
ACAT1
MutDB:
ACAT1
ALFRED:
LO046751X
HuGE:
ACAT1
Comparative Toxicogenomics Database:
38
ModBase:
P24752
HumanCyc Gene:
HS01167
HGNC:
93

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