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: 56997
MIM: 606980
HGNC: 16812
Ensembl: ENSG00000163050
Variants:
dbSNP: 56997
ClinVar: 56997
TCGA: ENSG00000163050
COSMIC: COQ8A
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33622667 | 2021 | Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review. | 4 |
| 33622667 | 2021 | Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review. | 4 |
| 32337771 | 2020 | Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. | 24 |
| 32337771 | 2020 | Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. | 24 |
| 30968303 | 2019 | Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature. | 10 |
| 30968303 | 2019 | Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature. | 10 |
| 26866375 | 2016 | AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation. | 13 |
| 27499294 | 2016 | Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity. | 52 |
| 26866375 | 2016 | AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation. | 13 |
| 27499294 | 2016 | Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity. | 52 |
| 25498144 | 2015 | Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. | 57 |
| 25540914 | 2015 | Preparation and characterization of human ADCK3, a putative atypical kinase. | 4 |
| 25498144 | 2015 | Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. | 57 |
| 25540914 | 2015 | Preparation and characterization of human ADCK3, a putative atypical kinase. | 4 |
| 25216398 | 2014 | A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3. | 10 |
Citation
Dessen P
COQ8A (coenzyme Q8A)
Atlas Genet Cytogenet Oncol Haematol. 2016-11-01
Online version: http://atlasgeneticsoncology.org/gene/78611/gene-explorer/
