FDPS Chromosome 1
Farnesyl diphosphate synthase
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What This Gene Does
This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
Associated Conditions (2)
Porokeratosis 9
multiple types
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS772984674 | Health Risk | Likely pathogenic | — |
| RS769193201 | Health Risk | Pathogenic | Porokeratosis 9, multiple types, Porokeratosis 9 |
| RS863225241 | Health Risk | Pathogenic | Porokeratosis 9, multiple types, Porokeratosis 9 |