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FDPS

Chr 1q22

farnesyl diphosphate synthase

MANE:
ENST00000368356.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Familial disseminated superficial actinic porokeratosis

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Rare genetic inflammatory skin disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • porokeratosis 9, multiple types

    0.64
  • disseminated superficial actinic porokeratosis

    0.62
  • osteoporosis

    0.61
  • postmenopausal osteoporosis

    0.60
  • plasma cell myeloma

    0.60
  • bone Paget disease

    0.60
  • prostate carcinoma

    0.59
  • metastasis

    0.59
  • bone fracture

    0.58
  • prostate cancer

    0.57

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Farnesyl pyrophosphate synthase

Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate

Curated MONDO disease pages that list FDPS among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.