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56997 COQ8A

56997

COQ8A

coenzyme Q8A

protein-coding

Homo sapiens

基因描述

Type Description
Definition coenzyme Q8A

研究结论

Date Results Publications
2020-12-12 13:27:00 Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. 32337771
2020-02-22 10:34:00 expand the clinical, molecular and biochemical spectrum of ADCK3 related CoQ10 deficiencies 30968303
2017-09-02 13:56:00 Loss of COQ8a results in cerebellar ataxia and coenzyme Q deficiency. 27499294
2016-07-16 11:26:00 ADCK3/COQ8 localises to mitochondrial cristae and is targeted to this organelle via the presence of an N-terminal localisation signal 26866375
2016-01-30 10:31:00 work reveals Mg(2+)-dependent ATPase activity of ADCK3, providing strong support for the theoretical prediction of this protein being a functional atypical kinase. 25540914

名称对应

Type IDs
Synonymous ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9
Gene
UniProtKB-ID: COQ8A_HUMAN
UniprotKB: Q8NI60
UniParc: UPI000006D3D9, UPI0000074030, UPI00004409B6, UPI0000126D6B
EMBL: BX648860, AJ278126, AK074693, AF218003, AB073905, AL353689, BC005171
Ensembl: ENSG00000163050
KO: hsa:56997
Nucleutide sequences
EMBL-CDS: AAH05171.2, BAC11143.1, CAC00482.1, AAG17245.1, CAH56132.1, BAB91363.1
Gene_ORFName: PP265
Ensembl_TRS: ENST00000366778, ENST00000366779, ENST00000366777
Protein sequencees
Ensembl_PRO: ENSP00000355739, ENSP00000355740, ENSP00000355741
RefSeq: XP_011542543.1, XP_011542541.1, NP_064632.2, XP_005273258.1, XP_024304286.1, XP_016857341.1, XP_011542540.1, XP_024304285.1
Others
UniRef100: UniRef100_Q8NI60
UniRef90: UniRef90_Q8NI60
UniRef50: UniRef50_Q8NI60
UniGene: Hs.118241
CCDS: CCDS1557.1

全选

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