LMPD Database

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LMP012613

UniProt Annotations

Entry Information
Gene Namefarnesyl diphosphate farnesyl transferase 1
Protein EntryFDFT_RAT
UniProt IDQ02769
SpeciesRat
Comments
Comment typeDescription
Catalytic Activity2 farnesyl diphosphate + NAD(P)H = squalene + 2 diphosphate + NAD(P)(+).
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420;
Disruption PhenotypeHypomorphic mutations in the Lss gene and in this gene were identified, as well as a null mutation in the Lss gene. Cataract onset is associated with the specific combination of Lss and Fdft1 mutant alleles that decrease cholesterol levels in cataractous lenses to about 57% of normal. Cholesterol insufficiency may cause the deficient proliferation of lens epithelial cells in Shumiya cataract rats, resulting in the loss of homeostatic epithelial cell control of the underlying fiber cells and ultimately cataractogenesis
FunctionCritical branch point enzyme of isoprenoid biosynthesis that is thought to regulate the flux of isoprene intermediates through the sterol pathway.
PathwayTerpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 1/3.
SimilarityBelongs to the phytoene/squalene synthase family
Subcellular LocationEndoplasmic reticulum membrane ; Multi-pass membrane protein .