PDSS1
Gene name: prenyl (decaprenyl) diphosphate synthase, subunit 1OMIM ID: 607429
Chromosome location: 10p12.1
Mutations
| Disease/Phenotype | Coenzyme Q10 deficiency, primary, 2 |
|---|---|
| Reference transcript | NM_014317.3 |
| DNA Change | c.924T>G |
| A.A. Change | p.Asp308Glu |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rotig A.CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet. 2008 Mar;82(3):623-30. |