Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 65260
MIM: 615623
HGNC: 25716
Ensembl: ENSG00000162377
Variants:
dbSNP: 65260
ClinVar: 65260
TCGA: ENSG00000162377
COSMIC: COA7
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000162377 | ENST00000371538 | Q96BR5 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37750949 | 2024 | Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum. | 0 |
| 37750949 | 2024 | Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum. | 0 |
| 35210360 | 2022 | Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly. | 8 |
| 35210360 | 2022 | Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly. | 8 |
| 30885959 | 2019 | Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7. | 33 |
| 30885959 | 2019 | Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7. | 33 |
| 29718187 | 2018 | Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. | 19 |
| 29718187 | 2018 | Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. | 19 |
| 27683825 | 2016 | COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. | 23 |
| 27683825 | 2016 | COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. | 23 |
| 24333015 | 2014 | C1orf163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly. | 14 |
| 24333015 | 2014 | C1orf163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly. | 14 |
Citation
Dessen P
COA7 (cytochrome c oxidase assembly factor 7)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61973/coa7-(cytochrome-c-oxidase-assembly-factor-7)
