Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PDSS1

Gene name: prenyl (decaprenyl) diphosphate synthase, subunit 1
OMIM ID: 607429
Chromosome location: 10p12.1

Mutations

Disease/PhenotypeCoenzyme Q10 deficiency, primary, 2
Reference transcriptNM_014317.3
DNA Changec.924T>G
A.A. Changep.Asp308Glu
Exon/Intronexon 10
Mutation Typesubstitution
ReferenceMollet 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.