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1355 COX15

1355

COX15

cytochrome c oxidase assembly homolog COX15

protein-coding

Homo sapiens

基因描述

Type Description
Definition cytochrome c oxidase assembly homolog COX15

研究结论

Date Results Publications
2021-02-02 13:24:00 Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome. 32232962
2016-11-12 10:03:00 Mutations of COX15 causing single amino acid conversions are associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome. 26940873
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-04-12 11:04:00 COX 15 mRNA was significantly more abundant in the cerebral tissue of Alzheimer's disease (AD) patients and COX10 and COX15 SNP were significantly less represented in the patient group, suggesting a possible protective role toward the risk for AD 19826901
2010-03-08 12:04:00 The expression of the AOX, well-tolerated by the cells, compensates for both the growth defect and the pronounced oxidant-sensitivity of COX-deficient human cells. 20049701

名称对应

Type IDs
Synonymous CEMCOX2
Gene
UniProtKB-ID: COX15_HUMAN, B4DQM2_HUMAN
UniprotKB: Q7KZN9, B4DQM2
UniParc: UPI00000712C9, UPI00017A7793, UPI000006E691
EMBL: BT007129, BC002382, CH471066, AL133353, BX537557, AK291654, BC078161, AK298864, BC013403, AF044323, AF026850
Ensembl: ENSG00000014919
KO: hsa:1355
Nucleutide sequences
EMBL-CDS: AAH13403.1, AAD08646.1, AAD08639.1, CAD97781.1, AAP35793.1, EAW49857.1, BAF84343.1, AAH02382.3, AAH78161.1, BAG60984.1
Ensembl_TRS: ENST00000370483, ENST00000016171
Protein sequencees
Ensembl_PRO: ENSP00000016171, ENSP00000359514
RefSeq: XP_006717697.1, NP_001358953.1, XP_011537600.1, NP_001358954.1, NP_004367.2, NP_001307903.1, NP_001358957.1, NP_001307905.1, NP_001358956.1, NP_001358955.1, NP_510870.1, NP_001307904.1
Others
UniRef100: UniRef100_Q7KZN9
UniRef90: UniRef90_Q7KZN9
UniRef50: UniRef50_Q7KZN9
UniGene: Hs.28326
CCDS: CCDS7482.1, CCDS7481.1

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