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253017 TECRL

253017

TECRL

trans-2,3-enoyl-CoA reductase like

protein-coding

Homo sapiens

基因描述

Type Description
Definition trans-2,3-enoyl-CoA reductase like

研究结论

Date Results Publications
2021-04-17 13:38:00 Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms. 32173957
2019-09-07 10:23:00 A compound heterozygosity in the Tecrl gene (Arg196Gln and c.918+3T > G splice site mutation) was identified in a patient with catecholaminergic polymorphic ventricular tachycardia. 30790670
2017-09-23 11:33:00 In summary, the authors report that mutations in TECRL are associated with inherited arrhythmias characterized by clinical features of both long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. 27861123
2010-09-15 22:05:00 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) 20628086
2010-09-15 22:05:00 Observational study of gene-disease association. (HuGE Navigator) 19913121

名称对应

Type IDs
Synonymous CPVT3, GPSN2L, SRD5A2L2, TERL
Gene
UniProtKB-ID: TECRL_HUMAN
UniprotKB: Q5HYJ1
UniParc: UPI0000141A54
EMBL: AK290606, BX647590, AL833108
Ensembl: ENSG00000205678
KO: hsa:253017
Nucleutide sequences
EMBL-CDS: CAI46063.1, CAI46109.1, BAF83295.1
Ensembl_TRS: ENST00000381210
Protein sequencees
Ensembl_PRO: ENSP00000370607
RefSeq: XP_024309729.1, NP_001010874.2, NP_001350725.1, XP_005265722.1, XP_016863448.1, XP_024309730.1, XP_005265721.1, XP_005265719.1
Others
UniRef100: UniRef100_Q5HYJ1
UniRef90: UniRef90_Q5HYJ1
UniRef50: UniRef50_Q5HYJ1
UniGene: Hs.227752
CCDS: CCDS33990.1

全选

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