Gene: TECRL

Alternate names for this Gene: CPVT3|GPSN2L|SRD5A2L2|TERL

Gene Summary: The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belongs to the steroid 5-alpha reductase family. Mutations in this gene result in ventricular tachycardia, catecholaminergic polymorphic, 3.

Gene is located in Chromosome: 4

Location in Chromosome : 4q13.1

Description of this Gene: trans-2,3-enoyl-CoA reductase like

Type of Gene: protein-coding

rs7656244 in TECRL gene and Mucocutaneous Lymph Node Syndrome PMID 22446961 2012 Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.

rs773204795 in TECRL gene and VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 PMID 27861123 2016 TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.