The present invention relates to a purified or isolated polynucleotide encoding human geranylgeranyl pyrophosphate synthetase, the regulatory nucleic acids contained therein, a polymorphic marker thereof and the resulting encoded protein, as well as to methods and kits for detecting this polynucleotide and this protein. The present invention also pertains to a polynucleotide carrying the natural regulatory regions of the hGGPS gene which is useful, for example, to express a heterologous nucleic acid in host cells or host organisms as well as functionally active regulatory polynucleotides derived from said regulatory region. The invention also consists in genetic markers, namely biallelic markers, which may be useful for the diagnosis of diseases related to an alteration in the regulatory or coding regions of hGGPS, such as pathologies related to a defect in the mevalonic biosynthetic pathway.
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