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TECRL
trans-2,3-enoyl-CoA reductase like
TECRL is located on the long (q) arm of chromosome 4, at band 4q13.1. Arm ratio per GRCh38 - banding schematic.
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Overview
TECRL encodes a 363-amino acid protein with sequence homology to enoyl-CoA reductase enzymes, though its precise biochemical activity remains under investigation. The gene is located on chromosome 4 and follows an autosomal recessive inheritance pattern, meaning pathogenic variants must be inherited from both parents to cause disease. Research has identified TECRL variants in individuals with catecholaminergic polymorphic ventricular tachycardia, a condition characterised by abnormal heart rhythms triggered by physical or emotional stress. Understanding this gene's role in cardiac physiology may help identify at-risk individuals and inform management strategies for affected families.
What the gene does
The TECRL protein shares structural features with trans-2,3-enoyl-CoA reductase family members, enzymes that typically catalyse reduction reactions in fatty acid metabolism. However, the specific substrate and catalytic function of TECRL in human cells have not been fully elucidated. Evidence suggests the protein may play a role in cardiac muscle cell function, potentially influencing calcium handling or membrane excitability processes critical for normal heart rhythm. The protein appears to be expressed in cardiac tissue, where it may contribute to maintaining electrical stability of cardiomyocytes. Disruption of TECRL function through pathogenic variants is thought to compromise cellular mechanisms that regulate rhythmic contraction, though the precise molecular pathway linking loss of TECRL activity to arrhythmia susceptibility requires further characterisation. The protein's reductase-like structure suggests it may participate in metabolic processes that support energy production or membrane lipid composition in heart muscle cells.
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Chromosome location
TECRL is located on the long arm of chromosome 4 at position 13.1, designated as 4q13.1. This chromosomal region contains multiple genes involved in diverse cellular functions. The genomic structure of TECRL and the specific number of exons encoding the 363-amino acid protein have not been comprehensively documented in publicly available databases. The gene's position on chromosome 4 places it in a region that is relatively accessible for genetic testing using standard sequencing approaches employed in clinical laboratories.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. The 363-amino acid sequence contains regions with homology to enoyl-CoA reductase enzymes, suggesting the presence of catalytic motifs typical of oxidoreductase family members, but specific functional domains have not been mapped through structural studies or annotated in reference protein databases.
Key variants
Pathogenic variants in TECRL follow an autosomal recessive inheritance pattern, meaning individuals must carry alterations in both gene copies to develop associated conditions. The variant landscape includes loss-of-function changes that are predicted to abolish or severely impair protein production or activity. Because TECRL-related arrhythmias are rare, the full spectrum of disease-causing variants remains incompletely catalogued, and each new affected family may contribute novel variants to the medical literature.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.202C>T | p.Gln68Ter | Pathogenic/Likely pathogenic | ★★☆☆ | TECRL-related disorder |
c.331+1G>A | - | Pathogenic/Likely pathogenic | ★★☆☆ | Catecholaminergic polymorphic ventricular tachycardia 3 |
c.438del | p.Leu148fs | Pathogenic/Likely pathogenic | ★★☆☆ | Cardiovascular phenotype |
c.567T>A | p.Cys189Ter | Pathogenic | ★★☆☆ | Cardiovascular phenotype |
c.586C>T | p.Arg196Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Cardiovascular phenotype |
c.675G>A | p.Trp225Ter | Pathogenic | ★★☆☆ | Cardiovascular phenotype |
c.206del | p.Thr69fs | Pathogenic | ★☆☆☆ | Cardiovascular phenotype |
c.272del | p.Lys91fs | Pathogenic | ★☆☆☆ | Cardiovascular phenotype |
c.395_408dup | p.Leu137fs | Pathogenic | ★☆☆☆ | Catecholaminergic polymorphic ventricular tachycardia 3 |
c.515_516del | p.Lys172fs | Pathogenic | ★☆☆☆ | Cardiovascular phenotype |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Pathogenic TECRL variants have been identified in individuals with catecholaminergic polymorphic ventricular tachycardia, a cardiac arrhythmia disorder characterised by abnormal heart rhythms that can be triggered by exercise, emotional stress, or adrenaline release. This condition typically presents in childhood or adolescence and carries a risk of syncope, seizures, or sudden cardiac arrest during periods of increased sympathetic activity. The autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia associated with TECRL is less common than the dominant forms linked to other genes, but recognition of this genetic cause is important for accurate family counselling and cascade testing.
No disease links recorded for this gene in our reference set.
Inheritance pattern
Conditions caused by pathogenic TECRL variants typically follow autosomal recessive inheritance.
When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.
UK clinical status
TECRL is included on the NHS Genomic Medicine Service Catecholaminergic polymorphic VT panel with green classification (R129), indicating strong evidence supporting its role in this arrhythmia syndrome and its suitability for diagnostic testing in appropriate clinical contexts. Inclusion on this panel reflects consensus among UK clinical genetics experts that TECRL variants represent a recognised cause of inherited arrhythmia and that testing may inform clinical management and family planning decisions for affected individuals and their relatives.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
How is TECRL-related catecholaminergic polymorphic ventricular tachycardia inherited?
TECRL-related arrhythmias follow an autosomal recessive inheritance pattern. An individual must inherit pathogenic variants from both parents to develop the condition. Parents who each carry one variant are typically unaffected carriers.
What does TECRL stand for?
TECRL stands for trans-2,3-enoyl-CoA reductase like. The name reflects the protein's structural similarity to enoyl-CoA reductase enzymes, though its precise function in cardiac tissue is still being investigated.
Can TECRL testing help identify family members at risk?
Once a pathogenic TECRL variant is identified in an affected individual, cascade testing can determine which family members carry the same variant. This information may inform cardiac monitoring strategies and reproductive planning for at-risk relatives.