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51204 TACO1

51204

TACO1

translational activator of cytochrome c oxidase I

protein-coding

Homo sapiens

基因描述

Type Description
Definition translational activator of cytochrome c oxidase I

研究结论

Date Results Publications
2011-01-22 10:51:00 report on clinical findings of patients with TACO1 gene mutation leading to cytochrome c oxidase deficiency. 20727754
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-01-21 00:00:00 Study identified a specific defect in the synthesis of the mitochondrial DNA-encoded COX I subunit in a pedigree segregating late-onset Leigh syndrome and cytochrome c oxidase (COX) deficiency 19503089

名称对应

Type IDs
Synonymous CCDC44
Gene
UniProtKB-ID: TACO1_HUMAN
UniprotKB: Q9BSH4
UniParc: UPI0000042223
EMBL: CH471109, AF090929, BC007744, AK315375, BC005049, AL833861
Ensembl: ENSG00000136463
KO: hsa:51204
Nucleutide sequences
EMBL-CDS: AAF24044.1, BAG37768.1, AAH05049.1, AAH07744.1, CAD38719.1, EAW94304.1
Gene_ORFName: PRO0477
Ensembl_TRS: ENST00000258975
Protein sequencees
Ensembl_PRO: ENSP00000258975
RefSeq: NP_057444.2
Others
UniRef100: UniRef100_Q9BSH4
UniRef90: UniRef90_Q9BSH4
UniRef50: UniRef50_Q9BSH4
UniGene: Hs.174134
CCDS: CCDS11640.1

全选

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