Identity
HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
CGI-92,COQ10D7
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: 51117
MIM: 612898
HGNC: 19693
Ensembl: ENSG00000167113
Variants:
dbSNP: 51117
ClinVar: 51117
TCGA: ENSG00000167113
COSMIC: COQ4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000167113 | ENST00000300452 | Q9Y3A0 |
| ENSG00000167113 | ENST00000372875 | Q5T4B9 |
| ENSG00000167113 | ENST00000608951 | V9GY32 |
| ENSG00000167113 | ENST00000609948 | V9GZ09 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38013626 | 2024 | Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype. | 1 |
| 38014483 | 2024 | Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization. | 1 |
| 38295803 | 2024 | COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells. | 2 |
| 38013626 | 2024 | Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype. | 1 |
| 38014483 | 2024 | Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization. | 1 |
| 38295803 | 2024 | COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells. | 2 |
| 37948995 | 2023 | Epilepsy and Coenzyme Q10 deficiency with COQ4 variants. | 0 |
| 37948995 | 2023 | Epilepsy and Coenzyme Q10 deficiency with COQ4 variants. | 0 |
| 36047608 | 2022 | Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease. | 4 |
| 36047608 | 2022 | Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease. | 4 |
| 33215859 | 2021 | Clinical spectrum in multiple families with primary COQ(10) deficiency. | 10 |
| 33704555 | 2021 | New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ(10) deficiency in muscle or skin fibroblasts. | 15 |
| 33215859 | 2021 | Clinical spectrum in multiple families with primary COQ(10) deficiency. | 10 |
| 33704555 | 2021 | New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ(10) deficiency in muscle or skin fibroblasts. | 15 |
| 30659264 | 2019 | Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome. | 11 |
Citation
Dessen P
COQ4 (coenzyme Q4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62026/coq4-(coenzyme-q4)
