Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q5T2R2 and Q86YH6 | Q5T2R2: subunit 1 (DPS1) and Q86YH6: subunit 2 (DLP1/PDSS2) | - |
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 |