GGPS1

Chr 1

geranylgeranyl diphosphate synthase 1

Also known as: GGPPS, GGPPS1, MDHLO, MUDHLOV

NCBI Gene: 9453 ENSG00000152904 UniProt: O95749

The protein catalyzes the synthesis of geranylgeranyl diphosphate (GGPP), which is essential for protein prenylation and regulation of nuclear hormone receptors. Biallelic mutations cause muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome with autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.64), and the syndrome involves multiple organ systems including muscle, auditory, and reproductive systems.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.64

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — GGPS1