Mouse prenyl (decaprenyl) diphosphate synthase, subunit 2 ELISA Kit | PDSS2 elisa kit
Mouse Decaprenyl-diphosphate synthase subunit 2, PDSS2 ELISA Kit
NCBI and Uniprot Product Information
Uniprot Description
PDSS2: Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10. Defects in PDSS2 are the cause of coenzyme Q10 deficiency, primary, type 3 (COQ10D3). A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. Belongs to the FPP/GGPP synthase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Secondary Metabolites Metabolism - terpenoid backbone biosynthesis; Transferase; EC 2.5.1.91
Cellular Component: mitochondrion; cytoplasm
Molecular Function: transferase activity; protein heterodimerization activity; trans-hexaprenyltranstransferase activity; trans-octaprenyltranstransferase activity
Biological Process: ubiquinone biosynthetic process; regulation of body fluid levels; isoprenoid biosynthetic process; protein heterotetramerization