PDSS2 è un gene codificato dal simbolo PDSS2. Comunemente indicato anche come: Decaprenyl-diphosphate synthase subunit 2; All-trans-decaprenyl-diphosphate synthase subunit 2; Candidate tumor suppressor protein; Decaprenyl pyrophosphate synthase subunit 2; C6orf210; DLP1. PDSS2 ha una massa di 44.13kDa, una lunghezza di amminoacidi di 399, ed è implicato in Coenzyme Q10 deficiency, primary, 3.
Offriamo 7 anticorpi contro PDSS2, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, Citometria a Flusso e ChIP con campioni derivati da Umano, Topo, Ratto e Scimmia.
Informazioni su geni e proteine
Riepilogo UniProt
Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10.
Sommario di Entrez
The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.
Coinvolgimento nella malattia
Coenzyme Q10 deficiency, primary, 3: 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.
Somiglianze di sequenza
Belongs to the FPP/GGPP synthase family.
Posizione cellulare
Mitochondrion.
