FDFT1 Gene (Farnesyl-Diphosphate Farnesyltransferase 1)
Key enzyme in cholesterol biosynthesis and potential therapeutic target
Gene Information Card
| Symbol | FDFT1 |
|---|---|
| Full Name | Farnesyl-Diphosphate Farnesyltransferase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 2222 ncbi.nlm.nih.gov/gene/2222 |
| Ensembl ID | ENSG00000179456 |
| UniProt ID | P37268 |
| OMIM ID | 184420 |
| HGNC ID | 3629 |
| Aliases | SQS, SQS1, SS, FPPF, FPP: farnesyltransferase |
Description
FDFT1 encodes squalene synthase, a key enzyme in the mevalonate pathway that catalyzes the first committed step of cholesterol biosynthesis, converting two molecules of farnesyl diphosphate into squalene. This gene is essential for sterol production and is implicated in metabolic disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squalene synthase deficiency | Loss-of-function mutations in FDFT1 impair cholesterol synthesis, leading to developmental abnormalities and metabolic defects. | OMIM #184420 |
| Hypercholesterolemia | Overexpression or gain-of-function variants may contribute to elevated cholesterol levels. | ClinVar |
| Cancer (various) | Altered FDFT1 expression affects mevalonate pathway flux, influencing tumor growth and survival. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adrenal gland | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Kidney | 4.2 | Low |
| Brain | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| A549 | 7.5 | Lung adenocarcinoma cell line |
| MCF7 | 5.2 | Breast cancer cell line |
| K562 | 3.1 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.104C>T (p.Thr35Met) | Missense | <0.01% | Reduced enzyme activity |
| c.682G>A (p.Gly228Arg) | Missense | <0.01% | Impaired catalytic function |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish squalene synthase activity, leading to cholesterol deficiency.
Gain of Function (GOF)
Not well-documented; overexpression may increase cholesterol synthesis.
Dominant Negative (DN)
Not reported for FDFT1.
View complete mutation data：
Gene Ontology (GO)
| • farnesyl-diphosphate farnesyltransferase activity | • squalene synthase activity |
| • cholesterol biosynthetic process | • isoprenoid biosynthetic process |
| • endoplasmic reticulum membrane |
Pathways
• Cholesterol biosynthesis
• Metabolism of lipids and lipoproteins
• Terpenoid backbone biosynthesis
Protein Summary
Squalene synthase is a 416-amino acid integral membrane protein localized to the endoplasmic reticulum. It catalyzes the reductive dimerization of two farnesyl diphosphate molecules to form squalene, a precursor of cholesterol. The enzyme is regulated by sterol levels and is a target for cholesterol-lowering drugs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FDFT1 Knockout HEK293 Cell Line | EDJ-KQ1025 | Human | 2222 | Details Get a Quote |
| FDFT1 Knockout A-549 Cell Line | EDJ-KQ20116 | Human | 2222 | Details Get a Quote |
| FDFT1 Knockout HCT 116 Cell Line | EDJ-KQ20117 | Human | 2222 | Details Get a Quote |
| FDFT1 Knockout HeLa Cell Line | EDJ-KQ20118 | Human | 2222 | Details Get a Quote |
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