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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CPT1B
carnitine palmitoyltransferase 1B
Chromosome 22 · 22q13.33
NCBI Gene: 1375Ensembl: ENSG00000205560.15HGNC: HGNC:2329UniProt: A5PLL0
65PubMed Papers
20Diseases
2Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcarnitine O-palmitoyltransferase activitymitochondrioncarnitine metabolic processcardiovascular diseaseangina pectorisMyasthenia gravishypertrophic cardiomyopathy
✦AI Summary

CPT1B (carnitine palmitoyltransferase 1B) is a mitochondrial outer membrane enzyme that catalyzes the rate-limiting step of fatty acid oxidation by converting long-chain fatty acyl-CoA to acyl-carnitines for mitochondrial transport 1. This process is essential for cellular energy production, particularly in tissues with high metabolic demands. The CPT1 family includes three isoforms (CPT1A, CPT1B, CPT1C), with CPT1B being the muscle-specific isoform 1. CPT1B plays a critical role in metabolic reprogramming during cardiomyocyte proliferation, where altering CPT1B expression can promote adult cardiomyocyte proliferation by reversing metabolic changes 2. The enzyme's activity is regulated through post-translational modifications, including ubiquitination and succinylation, which can affect its stability and enzymatic function 34. Clinical significance includes its involvement in diabetic cardiomyopathy, where impaired fatty acid oxidation leads to cardiac lipotoxicity 4. Additionally, CPT1 deficiencies are associated with inborn errors of fatty acid oxidation, representing more than 15 described genetic defects that result in severe metabolic consequences 1. Understanding CPT1B regulation and function has therapeutic implications for metabolic disorders and cardiac diseases.

Sources cited
1
CPT1B is part of the CPT1 family with three isoforms and catalyzes the rate-limiting step of fatty acid oxidation
PMID: 31900483
2
CPT1B alteration can promote adult cardiomyocyte proliferation through metabolic reprogramming
PMID: 38739695
3
CPT1 activity is regulated by ubiquitination and can be stabilized by specific mechanisms
PMID: 34976224
4
CPT1B/CPT2 pathway involvement in diabetic cardiomyopathy and cardiac lipotoxicity through succinylation regulation
PMID: 38718533
5
CPT1 deficiencies represent more than 15 genetic defects associated with fatty acid oxidation disorders
PMID: 31900483
Disease Associationsⓘ20
cardiovascular diseaseOpen Targets
0.37Weak
angina pectorisOpen Targets
0.37Weak
Myasthenia gravisOpen Targets
0.18Weak
hypertrophic cardiomyopathyOpen Targets
0.16Weak
lagophthalmosOpen Targets
0.15Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
heart failureOpen Targets
0.08Suggestive
diastolic heart failureOpen Targets
0.07Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.07Suggestive
diabetic cardiomyopathyOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
dilated cardiomyopathyOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
Insulin resistanceOpen Targets
0.04Suggestive
acute myeloid leukemiaOpen Targets
0.04Suggestive
cardiac hypertrophyOpen Targets
0.04Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
post-traumatic stress disorderOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets2
PERHEXILINEApproved
Carnitine O-palmitoyltransferase 1, muscle isoform inhibitor
cardiovascular disease
PERHEXILINE MALEATEUNKNOWN
Carnitine O-palmitoyltransferase 1, muscle isoform inhibitor
Related Genes
ACSL1Protein interaction94%UCP2Protein interaction93%ACACBProtein interaction91%CHKBProtein interaction91%ACSL5Protein interaction91%ACSL3Protein interaction91%
Tissue Expression6 tissues
Liver
100%
Heart
75%
Lung
36%
Bone Marrow
18%
Ovary
16%
Brain
13%
Gene Interaction Network
Click a node to explore
CPT1BACSL1UCP2ACACBCHKBACSL5ACSL3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q53FV7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.48–0.74]
RankingsWhere CPT1B stands among ~20K protein-coding genes
  • #7,158of 20,598
    Most Researched65
  • #989of 1,025
    FDA-Approved Drug Targets1
  • #5,842of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedCPT1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Regulation of energy metabolism by long-chain fatty acids.
PMID: 24362249
Prog Lipid Res · 2014
1.00
2
CPT1A-mediated Fat Oxidation, Mechanisms, and Therapeutic Potential.
PMID: 31900483
Endocrinology · 2020
0.90
3
Mitochondrial STAT3 exacerbates LPS-induced sepsis by driving CPT1a-mediated fatty acid oxidation.
PMID: 34976224
Theranostics · 2022
0.80
4
Metabolic Reprogramming: A Byproduct or a Driver of Cardiomyocyte Proliferation?
PMID: 38739695
Circulation · 2024
0.70
5
Sirt5 improves cardiomyocytes fatty acid metabolism and ameliorates cardiac lipotoxicity in diabetic cardiomyopathy via CPT2 de-succinylation.
PMID: 38718533
Redox Biol · 2024
0.60