Entity Details
| Primary name |
TECRL_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q5HYJ1 |
| EntryName | TECRL_HUMAN |
| FullName | Trans-2,3-enoyl-CoA reductase-like |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 363 |
| SequenceStatus | complete |
| DateCreated | 2008-02-05 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum |
| Membrane |
Domains
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| Domain | Name | Category | Type |
| IPR001104 | 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal | Domain | Domain |
| IPR039357 | 3-oxo-5-alpha-steroid 4-dehydrogenase/very-long-chain enoyl-CoA reductase | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 614021 | OMIM | Ventricular tachycardia, catecholaminergic polymorphic, 3 (CPVT3) | An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, or sudden death after physical activity or emotional stress. CPVT3 is an autosomal recessive disorder with onset at early age and associated with sudden death in childhood. Patients manifest QT prolongation on adrenergic stimulation. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction