Identity
HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
CGI-10,CGI10,COQ10D6
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: 51004
MIM: 614647
HGNC: 20233
Ensembl: ENSG00000119723
Variants:
dbSNP: 51004
ClinVar: 51004
TCGA: ENSG00000119723
COSMIC: COQ6
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30682496 | 2020 | Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype. | 6 |
| 30682496 | 2020 | Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype. | 6 |
| 28044327 | 2017 | Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants. | 15 |
| 28117207 | 2017 | COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss. | 24 |
| 28044327 | 2017 | Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants. | 15 |
| 28117207 | 2017 | COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss. | 24 |
| 24763291 | 2014 | A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis. | 6 |
| 24763291 | 2014 | A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis. | 6 |
| 21540551 | 2011 | COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. | 177 |
| 21540551 | 2011 | COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. | 177 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
Citation
Dessen P
COQ6 (coenzyme Q6, monooxygenase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62028
