FDPS
farnesyl diphosphate synthase
Summary
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]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2297480 | 1:155,279,482 | T/G | regulatory region variant | — |
| rs142276507 | 1:155,279,627 | C/T | — | uncertain significance |
| rs746782056 | 1:155,279,686 | G/A | — | uncertain significance |
| rs35362111 | 1:155,279,722 | C/T | — | benign |
| rs767738624 | 1:155,279,731 | T/G | — | uncertain significance |
| rs143038155 | 1:155,279,846 | C/T | — | benign |
| rs1648635690 | 1:155,279,897 | G/C | — | uncertain significance |
| rs765803031 | 1:155,279,906 | C/T | — | likely benign |
| rs757869821 | 1:155,279,927 | C/G | — | uncertain significance |
| rs777627832 | 1:155,279,968 | T/C | — | likely benign |
| rs61729685 | 1:155,282,065 | T/C | — | benign |
| rs11264359 | 1:155,282,829 | A/C | — | — |
| rs863225241 | 1:155,287,787 | G/A | missense variant | pathogenic |
| rs2525417442 | 1:155,287,981 | A/G | — | uncertain significance |
| rs780485073 | 1:155,287,985 | A/G | — | uncertain significance |
| rs1649722994 | 1:155,288,048 | C/A | — | uncertain significance |
| rs765430280 | 1:155,288,055 | C/T | — | likely benign |
| rs140056889 | 1:155,288,071 | C/G | — | uncertain significance |
| rs769193201 | 1:155,288,083 | G/A | coding sequence variant | pathogenic |
| rs772984674 | 1:155,288,084 | T/G | — | likely pathogenic |
| rs2525421056 | 1:155,288,513 | A/C | — | uncertain significance |
| rs1650021408 | 1:155,289,404 | A/G | — | likely benign |
| rs2229578 | 1:155,289,424 | A/C | — | uncertain significance |
| rs754756693 | 1:155,289,474 | A/G | — | uncertain significance |
| rs536916396 | 1:155,289,646 | A/C | — | uncertain significance |
| rs1650082836 | 1:155,289,660 | A/G | — | uncertain significance |
| rs770398620 | 1:155,289,706 | A/C | — | uncertain significance |
| rs41314549 | 1:155,290,231 | T/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.