FDFT1
Chr 8farnesyl-diphosphate farnesyltransferase 1
Also known as: DGPT, ERG9, SQS, SQSD, SS
This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Testing the Effect of M1774 on Hard-to-Treat Refractory SPOP-mutant Prostate Cancer
ACTIVE NOT RECRUITINGImplementation of Long-read Sequencing for the Diagnosis of Rare Diseases.
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools