Trans-2,3-Enoyl-CoA Reductase-Like Protein

Alternative Names

  • TECRL
  • TECR-Like Protein
  • TER-Like Protein
  • TERL
  • Steroid 5-Alpha-Reductase 2-Like 2
  • SRD5A2L2
  • GPSN2-Like
  • GPSN2L
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OMIM Number

617242

NCBI Gene ID

253017

Uniprot ID

Q5HYJ1

Length

134,254 bases

No. of Exons

15

No. of isoforms

1

Protein Name

Trans-2,3-Enoyl-CoA Reductase-Like

Molecular Mass

42009 Da

Amino Acid Count

363

Genomic Location

chr4:64,276,297-64,409,509

Gene Map Locus
4q13.1

Description

The TECRL gene encodes an integral membrane protein with oxidoreductase activity. The protein consists of a ubiquitin-like domain at the N-terminal, a 3-oxo-5-alpha steroid 4-dehydrogenase domain at the C-terminal and 3 transmembrane regions. While the specific function of TECRL is yet to be elucidated, it is believed to play a role in the biosynthesis of very long chain fatty acids.

Recent knockdown studies using sh-RNA have further illuminated the physiological role of TECRL. It was found that knockdown of TECRL in human embryonic stem cell-derived cardiomyocytes resulted in significantly prolonged action potentials. It also reduced cell content of the canonical calcium-handling proteins RYR2 and CASQ2. The gene has been implicated in Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 (CPVT3), an arrhythmia characterized by the overlapping features of CPVT and Long QT Syndrome. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001010874.5:c.331+1G>ASudanchr4:64328511PathogenicPathogenicVentricular Tachycardia, Catecholaminergic Polymorphic, 3NG_053152.1:g.85999G>A; NM_001010874.5:c.331+1G>A1057517699372283
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