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84274 COQ5

84274

COQ5

coenzyme Q5, methyltransferase

protein-coding

Homo sapiens

基因描述

Type Description
Definition coenzyme Q5, methyltransferase

研究结论

Date Results Publications
2018-07-21 10:34:00 This is the first report of primary CoQ10 deficiency caused by loss of function of COQ5, with delineation of the clinical, laboratory, histological, and molecular features, and insights regarding targeted treatment with CoQ10 supplementation. 29044765
2017-10-28 11:07:00 The expression of COQ5 was increased. 27155576
2013-08-31 10:15:00 The results that knockdown of the COQ5 gene reduced CoQ10 levels further indicated the critical role of COQ5 in the biosynthesis of CoQ10. 23354120
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624

名称对应

Type IDs
Gene
UniProtKB-ID: COQ5_HUMAN
UniprotKB: Q5HYK3
UniParc: UPI00001592AF
EMBL: BX647562, BC107874, AK222610, AK315681, AK057777, CH471054, AK293656, BC004916, EU700459
Ensembl: ENSG00000110871
Nucleutide sequences
EMBL-CDS: BAB71567.1, AAH04916.2, CAI46073.1, EAW98198.1, ACD75052.1, BAD96330.1, BAG57105.1, BAG38046.1, AAI07875.1
Ensembl_TRS: ENST00000288532
Protein sequencees
Ensembl_PRO: ENSP00000288532
RefSeq: NP_115690.3, XP_006719702.1, XP_024304992.1
Others
UniRef100: UniRef100_Q5HYK3
UniRef90: UniRef90_Q5HYK3
UniRef50: UniRef50_Q5HYK3
UniGene: Hs.17250
CCDS: CCDS31912.1

全选

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研究热度

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