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GGPS1

Mammalian protein found in Homo sapiens From Wikipedia, the free encyclopedia

GGPS1
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Geranylgeranyl pyrophosphate synthase is an enzyme that in humans is encoded by the GGPS1 gene.[5][6][7]

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Function

This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[7]

Much like its homolog farnesyl diphosphate synthase, GGPS1 is inhibited by bisphosphonate compounds.[8]

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Clinical

Mutations in both copies of this gene have been associated with a syndrome of muscular dystrophy, hearing loss and ovarian insufficiency.[9]

References

Further reading

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