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: 10229
MIM: 601683
HGNC: 2244
Ensembl: ENSG00000167186
Variants:
dbSNP: 10229
ClinVar: 10229
TCGA: ENSG00000167186
COSMIC: COQ7
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36854932 | 2023 | A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population. | 4 |
| 37170631 | 2023 | Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs. | 4 |
| 37392700 | 2023 | Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ(10) deficiency: Hypomorphic variants and two distinct disease entities. | 4 |
| 36854932 | 2023 | A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population. | 4 |
| 37170631 | 2023 | Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs. | 4 |
| 37392700 | 2023 | Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ(10) deficiency: Hypomorphic variants and two distinct disease entities. | 4 |
| 34244037 | 2022 | Association of ITPKB, IL1R2 and COQ7 with Parkinson's disease in Taiwan. | 1 |
| 36306796 | 2022 | Structure and functionality of a multimeric human COQ7:COQ9 complex. | 13 |
| 34244037 | 2022 | Association of ITPKB, IL1R2 and COQ7 with Parkinson's disease in Taiwan. | 1 |
| 36306796 | 2022 | Structure and functionality of a multimeric human COQ7:COQ9 complex. | 13 |
| 33215859 | 2021 | Clinical spectrum in multiple families with primary COQ(10) deficiency. | 10 |
| 33215859 | 2021 | Clinical spectrum in multiple families with primary COQ(10) deficiency. | 10 |
| 28409910 | 2017 | Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment. | 36 |
| 28409910 | 2017 | Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment. | 36 |
| 25339443 | 2014 | Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis. | 64 |
Citation
Dessen P
COQ7 (coenzyme Q7, hydroxylase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62029/coq7-(coenzyme-q7-hydroxylase)
