FDFT1
Chr 8ARfarnesyl-diphosphate farnesyltransferase 1
Also known as: DGPT, ERG9, SQS, SQSD, SS
The protein catalyzes the condensation of two farnesyl pyrophosphate molecules to form squalene, serving as the first committed enzyme in cholesterol biosynthesis. Mutations cause squalene synthase deficiency, an autosomal recessive disorder affecting cholesterol metabolism. This gene shows very high constraint against loss-of-function variants (pLI ~1.0), indicating that complete loss of protein function is typically incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FDFT1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.
NOT YET RECRUITINGTesting the Effect of M1774 on Hard-to-Treat Refractory SPOP-mutant Prostate Cancer
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools