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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CRAT
carnitine O-acetyltransferase
Chromosome 9 · 9q34.11
NCBI Gene: 1384Ensembl: ENSG00000095321.18HGNC: HGNC:2342UniProt: A0A7P0TAR1
52PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
acyl-CoA oxidase activitycarnitine O-acetyltransferase activitycarnitine metabolic process, CoA-linkedfatty acid beta-oxidation using acyl-CoA oxidaseneurodegeneration with brain iron accumulation 8neurodegeneration with brain iron accumulationneurodegenerative diseaserespiratory system disease
✦AI Summary

CRAT (carnitine O-acetyltransferase) is a key mitochondrial enzyme that catalyzes the reversible transfer of acetyl groups between acetyl-CoA and carnitine, maintaining optimal mitochondrial carbon flux and preventing acetyl-CoA accumulation 1. This bidirectional enzyme is responsible for synthesizing short- and branched-chain acylcarnitines 2 and plays a crucial role in transporting fatty acids for beta-oxidation 34. CRAT regulates the acyl-CoA/CoA ratio and contributes to metabolic flexibility by buffering the balance between fatty acid and glucose oxidation 1. Under calorie restriction, CRAT expression is upregulated, supporting increased acetylcarnitine and short-chain acylcarnitine production, facilitating acetyl group distribution across cellular compartments 5. CRAT localizes primarily to mitochondria, with alternative transcripts potentially targeting other compartments 6. Clinically, CRAT dysfunction is associated with mitochondrial encephalopathy and Leigh syndrome; missense variants impairing catalytic function toward acetyl-CoA and branched-chain substrates cause carnitine acetyltransferase deficiency 7. Additionally, genetic polymorphisms in CRAT influence carnitine metabolism in red blood cells, affecting lipid damage repair and age-dependent hemolysis 8.

Sources cited
1
CRAT's role in reversible acetyl group transfer, preventing acetyl-CoA accumulation, and maintaining metabolic homeostasis and flexibility
PMID: 40001519
2
CRAT's responsibility for synthesis of short- and branched-chain acylcarnitines and activity toward BCAAO intermediates
PMID: 23485643
3
CRAT's crucial role in transport of fatty acids for beta-oxidation
PMID: 15099582
4
CRAT's role in fatty acid transport for beta-oxidation
PMID: 29395073
5
CRAT upregulation under calorie restriction supporting increased acylcarnitine production and metabolic flexibility
PMID: 33105059
6
CRAT transcript variants and preferential mitochondrial subcellular localization
PMID: 18839069
7
CRAT missense variants causing enzyme deficiency and Leigh syndrome with impaired catalytic function
PMID: 31448845
8
CRAT genetic polymorphisms influencing carnitine metabolism, lipid damage repair, and RBC hemolysis
PMID: 38513237
Disease Associationsⓘ21
neurodegeneration with brain iron accumulation 8Open Targets
0.48Moderate
neurodegeneration with brain iron accumulationOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.30Weak
respiratory system diseaseOpen Targets
0.28Weak
Alzheimer diseaseOpen Targets
0.25Weak
lysosomal storage diseaseOpen Targets
0.25Weak
multiple sclerosisOpen Targets
0.25Weak
Parkinson diseaseOpen Targets
0.25Weak
Leigh syndromeOpen Targets
0.19Weak
atopic eczemaOpen Targets
0.16Weak
intelligenceOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
Deltaretrovirus InfectionsOpen Targets
0.08Suggestive
asthmaOpen Targets
0.08Suggestive
rheumatoid arthritisOpen Targets
0.07Suggestive
hypersomniaOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
chronic lymphocytic leukemiaOpen Targets
0.07Suggestive
dyslexiaOpen Targets
0.06Suggestive
Neurodegeneration with brain iron accumulation 8UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HSD17B4Protein interaction100%SCP2Protein interaction98%PEX5Protein interaction97%SLC25A20Protein interaction92%SLC18A3Protein interaction88%ACOX1Protein interaction84%
Tissue Expression6 tissues
Liver
100%
Heart
36%
Brain
18%
Ovary
17%
Lung
13%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
CRATHSD17B4SCP2PEX5SLC25A20SLC18A3ACOX1
PROTEIN STRUCTURE
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PDB1NM8 · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.74–1.11]
RankingsWhere CRAT stands among ~20K protein-coding genes
  • #8,540of 20,598
    Most Researched52
  • #11,393of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedCRAT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The EULAR points to consider for use of antirheumatic drugs before pregnancy, and during pregnancy and lactation.
PMID: 26888948
Ann Rheum Dis · 2016
1.00
2
Vitamin D in Chronic Kidney Disease and Dialysis Patients.
PMID: 28346348
Nutrients · 2017
0.90
3
Catheter-related right atrial thrombosis.
PMID: 31552793
J Vasc Access · 2020
0.80
4
CR reprograms acetyl-CoA metabolism and induces long-chain acyl-CoA dehydrogenase and CrAT expression.
PMID: 33105059
Aging Cell · 2020
0.70
5
The carnitine acetyltransferase gene (CRAT): a characterization of porcine transcripts with insights into the 5'-end variants of mammalian transcripts and their possible sub-cellular localization.
PMID: 18839069
Cell Mol Biol Lett · 2009
0.60