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Literature summary for 2.5.1.91 extracted from
- Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations (2006), Am. J. Hum. Genet., 79, 1125-1129.
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | Q5T2R2 and Q86YH6 | Q5T2R2: subunit 1 (DPS1) and Q86YH6: subunit 2 (DLP1/PDSS2) | - |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | pathogenic mutations in PDSS2 (PDSS2 encodes the second subunit of decaprenyl diphosphate synthase) causing primary CoQ10 deficiency in an infant with fatal Leigh syndrome and nephrotic syndrome | Homo sapiens |
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Release 2023.1 (January 2023)
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