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1337 COX6A1

1337

COX6A1

cytochrome c oxidase subunit 6A1

protein-coding

Homo sapiens

基因描述

Type Description
Definition cytochrome c oxidase subunit 6A1

研究结论

Date Results Publications
2016-02-06 10:28:00 We demonstrate a developmental isoform switch of COX6A and COX7A subunits in human and mouse skeletal muscle 25666558
2014-11-08 10:52:00 Mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. 25152455
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-07-26 11:58:00 Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 6a 20307258
2010-02-22 11:39:00 Data found that subunits Cox6a, Cox6b and Cox7a assembled into pre-existing complex IV, while Cox4-1 and Cox6c subunits assembled into subcomplexes that may represent rate-limiting intermediates. 19843159

名称对应

Type IDs
Synonymous CMTRID, COX6A, COX6AL
Gene
UniProtKB-ID: CX6A1_HUMAN, H6SG15_HUMAN
UniprotKB: P12074, H6SG15
UniParc: UPI0000128144
EMBL: AK312009, BC007723, X15341, BC070186, AL021546, HE647860, BC107861
Ensembl: ENSG00000111775
KO: hsa:1337
Nucleutide sequences
EMBL-CDS: CAA33392.1, AAI07862.1, AAH07723.1, AAH70186.1, BAG34947.1, CCF23108.1
Ensembl_TRS: ENST00000229379
Protein sequencees
Ensembl_PRO: ENSP00000229379
RefSeq: NP_004364.2
Others
UniRef100: UniRef100_P12074
UniRef90: UniRef90_P12074
UniRef50: UniRef50_P12074
UniGene: Hs.369624
CCDS: CCDS9197.1

全选

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研究热度

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