FDFT1 Chromosome 8
Farnesyl-diphosphate farnesyltransferase 1
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What This Gene Does
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]
Associated Conditions (2)
FDFT1-related disorder
Squalene synthase deficiency
Key Variants
RS181750463
Conflicting classifications of pathogenicity
FDFT1-related disorder, FDFT1-related disorder
Health Risk
RS1563290033
Likely pathogenic
Squalene synthase deficiency, Squalene synthase deficiency
Health Risk
RS1563339323
Likely pathogenic
Squalene synthase deficiency, Squalene synthase deficiency
Health Risk
RS1810791017
Likely pathogenic
Squalene synthase deficiency, Squalene synthase deficiency
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS181750463 | Health Risk | Conflicting classifications of pathogenicity | FDFT1-related disorder, FDFT1-related disorder |
| RS1563290033 | Health Risk | Likely pathogenic | Squalene synthase deficiency, Squalene synthase deficiency |
| RS1563339323 | Health Risk | Likely pathogenic | Squalene synthase deficiency, Squalene synthase deficiency |
| RS1810791017 | Health Risk | Likely pathogenic | Squalene synthase deficiency, Squalene synthase deficiency |