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23395 LARS2

23395

LARS2

leucyl-tRNA synthetase 2, mitochondrial

protein-coding

Homo sapiens

基因描述

Type Description
Definition leucyl-tRNA synthetase 2, mitochondrial

研究结论

Date Results Publications
2019-12-14 10:38:00 This study adds LARS2 and KARS pathogenic variants as gene defects that may underlie deafness, ovarian failure, and leukodystrophy with mitochondrial signature. 30737337
2019-06-29 11:34:00 We report novel associations between methylation at MSI2 and LARS2 and obesity-related traits. These results provide further insight into mechanisms underlying obesity-related traits, which can enable identification of new biomarkers in obesity-related chronic diseases. 29762635
2019-01-12 10:43:00 We concluded that Perrault syndrome patients with LARS2 mutations are at risk for neurologic problems, despite previous notions otherwise. 29205794
2018-07-14 10:55:00 IARS2 knockdown inhibits proliferation, suppresses colony formation, and causes cell cycle arrest in AGS cells. 29071539
2017-07-01 10:55:00 ere we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4, LARS2, CLPP and C10orf2 26970254

名称对应

Type IDs
Synonymous HLASA, LEURS, PRLTS4, mtLeuRS
Gene
UniProtKB-ID: SYLM_HUMAN
UniprotKB: Q15031
UniParc: UPI0000001297
EMBL: D21851, BC025989
Ensembl: ENSG00000011376
KO: hsa:23395
Nucleutide sequences
EMBL-CDS: BAA04877.2, AAH25989.1
Ensembl_TRS: ENST00000642274, ENST00000650792, ENST00000645846
Protein sequencees
Ensembl_PRO: ENSP00000495093, ENSP00000498867, ENSP00000495707
RefSeq: NP_001355192.1, NP_056155.1, XP_011531856.1, XP_016861531.1
Others
UniRef100: UniRef100_Q15031
UniRef90: UniRef90_Q15031
UniRef50: UniRef50_Q15031
UniGene: Hs.526975
CCDS: CCDS2728.1

全选

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研究热度

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