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Literature summary for 2.5.1.39 extracted from
- Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis (2007), Hum. Mol. Genet., 16, 1091-1097.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | in patients with encephalomyopathy, nephropathy and severe CoQ10 deficiency, a homozygous mutation was identified in the CoQ10 biosynthesis gene COQ2. mRNA levels of this gene are significantly increased in patients fibroblast, and its activity is significantly lower in fibroblasts of patients with mutation c.890A.G relative to controls and CoQ10-deficient fibroblasts from ataxic patient | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| additional information | in patients with encephalomyopathy, nephropathy and severe CoQ10 deficiency, a homozygous mutation was identified in the CoQ10 biosynthesis gene COQ2. mRNA levels of this gene are significantly increased in patients fibroblast, and its activity is significantly lower in fibroblasts of patients with mutation c.890A.G relative to controls and CoQ10-deficient fibroblasts from ataxic patient. Wild-type enzyme is able to complement Coq2 defective Sacharomyces cerevisiae | Homo sapiens |
| additional information | introduction of mutation c.783 A>G, which is the equivalent of human mutation c.890 A>G associated with encephalomyopathy, nephropathy and severe coenzyme Q10 deficiency results in decrease of coenzyme Q6 to 59% of wild-type and decreases growth in respiratory-chain dependent medium. Level of demetoxy-Q6 increases in mutant strains | Saccharomyces cerevisiae |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
isoform Coq2 | - |
| Saccharomyces cerevisiae | - |
isoform Coq2 | - |
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