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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TECRL
trans-2,3-enoyl-CoA reductase like
Chromosome 4 Β· 4q13.1
NCBI Gene: 253017Ensembl: ENSG00000205678.8HGNC: HGNC:27365UniProt: E9PD39
15PubMed Papers
21Diseases
0Drugs
25Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulumvery-long-chain enoyl-CoA reductase activitysphingolipid metabolic processvery long-chain fatty acid biosynthetic processcatecholaminergic polymorphic ventricular tachycardiaAbnormality of the cardiovascular systemfrozen shoulderbenign neoplasm of pituitary gland
✦AI Summary

TECRL (trans-2,3-enoyl-CoA reductase like) is an endoplasmic reticulum protein preferentially expressed in cardiac tissue that regulates mitochondrial function and calcium homeostasis in cardiomyocytes 1. The protein possesses very-long-chain enoyl-CoA reductase activity and participates in sphingolipid and fatty acid metabolism [GO annotations]. Mechanistically, TECRL deficiency impairs mitochondrial respiration by reducing ATP production, increasing reactive oxygen species, and decreasing expression of the mitochondrial fusion protein MFN2 and phosphorylated AKT, ultimately promoting mitochondrial apoptotic cascades 2. TECRL regulates these processes primarily through PI3K/AKT signaling and MFN2-mediated mitochondrial fusion 2. Additionally, TECRL deficiency disrupts calcium handling by reducing sarcoplasmic reticulum calcium stores and SERCA/NCX activities, causing abnormal calcium transients 3. Biallelic TECRL mutations cause catecholaminergic polymorphic ventricular tachycardia type 3 (CPVT3), characterized by stress-induced ventricular arrhythmias and sudden cardiac death risk, with phenotypic overlap featuring long QT interval prolongation 34. While homozygous/compound heterozygous mutations cause severe disease, heterozygous carriers typically remain asymptomatic 5. Beta-blockers (nadolol or propranolol) and class Ic antiarrhythmics (flecainide) represent therapeutic options 35.

Sources cited
1
TECRL deficiency impairs mitochondrial respiration through PI3K/AKT signaling and MFN2, reducing ATP and increasing ROS and FAS
PMID: 35577932
2
TECRL is an endoplasmic reticulum protein preferentially expressed in heart, playing a role in cardiomyocyte calcium homeostasis
PMID: 35679758
3
TECRL mutations cause CPVT3 with overlapping LQTS features, impaired calcium handling, and prolonged action potentials; flecainide reduces triggered activity
PMID: 27861123
4
TECRL variants cause autosomal recessive CPVT type 3; variants may account for up to 5% of all CPVT cases
PMID: 32173957
5
Biallelic TECRL variants present with variable arrhythmia phenotypes; nadolol and propranolol are superior beta-blockers; heterozygous carriers remain asymptomatic
PMID: 33367594
Disease Associationsβ“˜21
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.71Strong
Abnormality of the cardiovascular systemOpen Targets
0.54Moderate
frozen shoulderOpen Targets
0.33Weak
benign neoplasm of pituitary glandOpen Targets
0.31Weak
cervical carcinomaOpen Targets
0.28Weak
response to antihypertensive drugOpen Targets
0.23Weak
VertigoOpen Targets
0.20Weak
complicationOpen Targets
0.20Weak
hemorrhageOpen Targets
0.20Weak
retinal degenerationOpen Targets
0.20Weak
liver diseaseOpen Targets
0.19Weak
epilepsyOpen Targets
0.19Weak
obesityOpen Targets
0.19Weak
generalized dystoniaOpen Targets
0.19Weak
pathological myopiaOpen Targets
0.19Weak
respiratory tract infectious disorderOpen Targets
0.19Weak
smoking initiationOpen Targets
0.18Weak
benign neoplasm of adrenal glandOpen Targets
0.17Weak
placenta praeviaOpen Targets
0.16Weak
temporomandibular joint disorderOpen Targets
0.16Weak
Ventricular tachycardia, catecholaminergic polymorphic, 3UniProt
Pathogenic Variants25
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)Likely pathogenic
Catecholaminergic polymorphic ventricular tachycardia 3|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 196
NM_001010874.5(TECRL):c.202C>T (p.Gln68Ter)Pathogenic
Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 68
NM_001010874.5(TECRL):c.567T>A (p.Cys189Ter)Pathogenic
Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 3
β˜…β˜…β˜†β˜†2024β†’ Residue 189
NM_001010874.5(TECRL):c.675G>A (p.Trp225Ter)Pathogenic
Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 3
β˜…β˜…β˜†β˜†2024β†’ Residue 225
NM_001010874.5(TECRL):c.586C>T (p.Arg196Ter)Pathogenic
Cardiovascular phenotype|TECRL-related disorder|Catecholaminergic polymorphic ventricular tachycardia 3
β˜…β˜…β˜†β˜†2023β†’ Residue 196
NM_001010874.5(TECRL):c.730+1G>ALikely pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2023
NM_001010874.5(TECRL):c.809TGT[1] (p.Leu271del)Likely pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2025β†’ Residue 271
NM_001010874.5(TECRL):c.658-2delLikely pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2025
NM_001010874.5(TECRL):c.395_408dup (p.Leu137fs)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 3
β˜…β˜†β˜†β˜†2024β†’ Residue 137
NM_001010874.5(TECRL):c.658-2A>GLikely pathogenic
TECRL-related disorder|Cardiovascular phenotype
β˜…β˜†β˜†β˜†2024
NM_001010874.5(TECRL):c.272del (p.Lys91fs)Pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2024β†’ Residue 91
NM_001010874.5(TECRL):c.435+1_435+97delLikely pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2024
NM_001010874.5(TECRL):c.331+1G>APathogenic
Catecholaminergic polymorphic ventricular tachycardia 3
β˜…β˜†β˜†β˜†2024
NM_001010874.5(TECRL):c.833-1G>CLikely pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2023
NM_001010874.5(TECRL):c.436-2A>GLikely pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2023
NM_001010874.5(TECRL):c.515_516del (p.Lys172fs)Pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2023β†’ Residue 172
NM_001010874.5(TECRL):c.206del (p.Thr69fs)Pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2022β†’ Residue 69
NM_001010874.5(TECRL):c.271_272del (p.Lys91fs)Likely pathogenic
Catecholaminergic polymorphic ventricular tachycardia 3
β˜…β˜†β˜†β˜†2022β†’ Residue 91
NM_001010874.5(TECRL):c.736G>T (p.Gly246Ter)Pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2022β†’ Residue 246
NM_001010874.5(TECRL):c.137dup (p.Arg47fs)Pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2022β†’ Residue 47
View on ClinVar β†—
Related Genes
SRD5A1Protein interaction92%SRD5A3Protein interaction92%HACD4Protein interaction91%HACD1Protein interaction73%HACD3Protein interaction73%HACD2Protein interaction73%
Tissue Expression6 tissues
Heart
100%
Brain
0%
Lung
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
TECRLSRD5A1SRD5A3HACD4HACD1HACD3HACD2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5HYJ1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.56LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.03 [0.70–1.56]
RankingsWhere TECRL stands among ~20K protein-coding genes
  • #15,710of 20,598
    Most Researched15
  • #1,992of 5,498
    Most Pathogenic Variants25
  • #15,490of 17,882
    Most Constrained (LOEUF)1.56
Genes detectedTECRL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes.
PMID: 35577932
Commun Biol Β· 2022
1.00
2
Arrhythmogenic Potential of Heterozygous TECRL Variants in Type 3 Catecholaminergic Polymorphic Ventricular Tachycardia.
PMID: 39945714
JACC Clin Electrophysiol Β· 2025
0.90
3
TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.
PMID: 27861123
EMBO Mol Med Β· 2016
0.80
4
A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.
PMID: 30790670
Eur J Med Genet Β· 2019
0.70
5
Generation of an induced pluripotent stem cell line from a Chinese Han child with catecholaminergic polymorphic ventricular tachycardia.
PMID: 35679758
Stem Cell Res Β· 2022
0.60