TECRL Gene
Trans-2,3-Enoyl-CoA Reductase Like Gene
Gene Information Card
| Symbol | TECRL |
|---|---|
| Full Name | Trans-2,3-Enoyl-CoA Reductase Like |
| Gene Type | Protein coding |
| Chromosomal Location | 4q13.1 |
| NCBI Gene ID | 253827 ncbi.nlm.nih.gov/gene/253827 |
| Ensembl ID | ENSG00000164124 |
| UniProt ID | Q5T1J5 |
| OMIM ID | 617242 |
| HGNC ID | 28269 |
| Aliases | FLJ13154, MGC131891 |
Description
TECRL encodes a protein with similarity to trans-2,3-enoyl-CoA reductase, an enzyme involved in fatty acid metabolism. Mutations in TECRL have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT), a cardiac disorder characterized by stress-induced arrhythmias. The protein is localized to the endoplasmic reticulum and may play a role in calcium handling in cardiomyocytes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Catecholaminergic polymorphic ventricular tachycardia (CPVT) | Loss-of-function mutations in TECRL impair calcium homeostasis in cardiac cells, leading to arrhythmias under stress. | ClinVar, OMIM |
| Sudden cardiac death | TECRL mutations predispose to lethal arrhythmias, especially in young individuals. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.3 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 15.0 | Highest expression in cardiac cells |
| HEK293 | 2.1 | Low expression |
| HepG2 | 4.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.19C>T (p.Arg7Trp) | Missense | Rare | Loss of function; associated with CPVT |
| c.325G>A (p.Gly109Arg) | Missense | Rare | Loss of function; reported in CPVT families |
| c.544C>T (p.Arg182*) | Nonsense | Rare | Truncating; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most TECRL mutations are loss-of-function, reducing protein stability or enzymatic activity, leading to defective calcium handling in cardiomyocytes.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TECRL.
Dominant Negative (DN)
No dominant-negative effects have been described for TECRL mutations.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity | • endoplasmic reticulum |
| • calcium ion binding | • fatty acid metabolic process |
Pathways
• Fatty acid elongation
• Cardiac calcium signaling
Protein Summary
The TECRL protein is a 343-amino acid transmembrane protein localized to the endoplasmic reticulum. It shares homology with trans-2,3-enoyl-CoA reductase, an enzyme involved in very long-chain fatty acid elongation. In cardiac tissue, TECRL is thought to modulate calcium release from the sarcoplasmic reticulum, and its dysfunction leads to arrhythmogenic phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TECRL Knockout HEK293 Cell Line | EDJ-KQ11728 | Human | 253017 | Details Get a Quote |
| TECRL Knockout HeLa Cell Line | EDJ-KQ59238 | Human | 253017 | Details Get a Quote |
| TECRL Knockout A-549 Cell Line | EDJ-KQ67706 | Human | 253017 | Details Get a Quote |
| TECRL Knockout HCT 116 Cell Line | EDJ-KQ76089 | Human | 253017 | Details Get a Quote |
