TECRL gene

trans-2,3-enoyl-CoA reductase like

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Apr 2017]

From NCBI Gene:

  • Ventricular tachycardia, catecholaminergic polymorphic, 3

From UniProt:

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. [MIM:614021]

Cytogenetic Location: 4q13.1, which is the long (q) arm of chromosome 4 at position 13.1

Molecular Location: base pairs 64,276,298 to 64,409,509 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q13.1, which is the long (q) arm of chromosome 4 at position 13.1
  • CPVT3
  • GPSN2L
  • SRD5A2L2
  • TERL