Identity
HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
CMTRID,COX6A,COX6AL
FUSION GENES
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: 1337
MIM: 602072
HGNC: 2277
Ensembl: ENSG00000111775
Variants:
dbSNP: 1337
ClinVar: 1337
TCGA: ENSG00000111775
COSMIC: COX6A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000111775 | ENST00000229379 | P12074 |
| ENSG00000111775 | ENST00000229379 | H6SG15 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 25666558 | 2015 | Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease. | 7 |
| 25666558 | 2015 | Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease. | 7 |
| 25152455 | 2014 | A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. | 37 |
| 25152455 | 2014 | A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. | 37 |
| 20307258 | 2010 | Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b. | 44 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20307258 | 2010 | Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b. | 44 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 19843159 | 2009 | Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria. | 47 |
| 19843159 | 2009 | Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria. | 47 |
| 18549809 | 2008 | Identification of cytochrome c oxidase subunit 6A1 as a suppressor of Bax-induced cell death by yeast-based functional screening. | 12 |
| 18549809 | 2008 | Identification of cytochrome c oxidase subunit 6A1 as a suppressor of Bax-induced cell death by yeast-based functional screening. | 12 |
Citation
Dessen P
COX6A1 (cytochrome c oxidase subunit 6A1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62041/cox6a1-(cytochrome-c-oxidase-subunit-6a1)
