FASN Gene (Fatty Acid Synthase): Function, Expression, and Disease Associations
A comprehensive biomedical overview of the FASN gene, including genomic context, protein function, tissue expression, and clinical significance.
Gene Information Card
| Symbol | FASN |
|---|---|
| Full Name | Fatty acid synthase |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 2194 ncbi.nlm.nih.gov/gene/2194 |
| Ensembl ID | ENSG00000169710 |
| UniProt ID | P49327 |
| OMIM ID | 600212 |
| HGNC ID | 3594 |
| Aliases | FAS; OA-519; SDR27X1; MGC14367; MGC149067 |
Description
The FASN gene encodes fatty acid synthase, a multifunctional enzyme that catalyzes the de novo synthesis of long-chain fatty acids from acetyl-CoA, malonyl-CoA, and NADPH. This enzyme plays a central role in lipid metabolism, energy storage, and cell membrane synthesis. FASN is highly expressed in lipogenic tissues (liver, adipose) and is upregulated in many cancers, making it a potential therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of FASN promotes lipogenesis, supporting tumor cell proliferation and survival. | High expression in breast, prostate, colorectal, and lung cancers; associated with poor prognosis (COSMIC, literature). |
| Metabolic syndrome | Increased FASN activity contributes to fatty acid accumulation, insulin resistance, and obesity. | Genetic variants and expression studies link FASN to metabolic disorders (OMIM, literature). |
| Neurological disorders | Altered FASN expression may affect neuronal membrane composition and function. | Studies suggest involvement in Alzheimer's disease and other neurodegenerative conditions (literature). |
| Inherited disorders (rare) | Mutations in FASN can cause developmental delay, intellectual disability, and seizures. | Case reports and ClinVar entries (ClinVar). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | High | High |
| Adipose tissue | High | High |
| Brain | Low | Low |
| Heart | Low | Low |
| Skeletal muscle | Low | Low |
| Kidney | Medium | Medium |
| Lung | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | High | High expression; used as model for lipogenesis |
| MCF7 (breast cancer) | High | Overexpressed; associated with aggressive phenotype |
| A549 (lung cancer) | Medium | Moderate expression; potential target |
| PC3 (prostate cancer) | High | Overexpressed; linked to proliferation |
| HeLa (cervical cancer) | Medium | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1021C>T (p.Arg341Trp) | Missense | Rare | Loss of function; associated with developmental delay |
| c.2044G>A (p.Glu682Lys) | Missense | Rare | Loss of function; reported in patients with intellectual disability |
| c.3122T>C (p.Leu1041Pro) | Missense | Rare | Loss of function; affects enzyme activity |
| c.4213A>G (p.Thr1405Ala) | Missense | Rare | Loss of function; reported in seizure disorder |
Mutation functional classification
Loss of Function (LOF)
Most reported FASN mutations are loss-of-function, leading to reduced fatty acid synthesis, which is critical for brain development and function.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented; overexpression is more common in cancer due to transcriptional upregulation rather than mutation.
Dominant Negative (DN)
No dominant-negative mutations have been reported for FASN.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid synthase activity | • acyl carrier activity |
| • NADP binding | • oxidoreductase activity |
| • fatty acid biosynthetic process | • lipid metabolism |
| • cellular response to glucose stimulus | • response to insulin |
Pathways
• Fatty acid biosynthesis
• Metabolic pathways
• AMPK signaling pathway
• Insulin signaling pathway
• PPAR signaling pathway
• HIF-1 signaling pathway
Protein Summary
Fatty acid synthase (FASN) is a homodimeric enzyme with seven catalytic domains that sequentially add two-carbon units to a growing fatty acid chain. It produces palmitate (C16:0) as the primary product. FASN is regulated by nutritional and hormonal signals, and its overexpression in cancer is linked to the Warburg effect and lipogenic phenotype. The protein is localized in the cytoplasm and is also found on the cell surface in some cancer cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FASN Knockout HEK293 Cell Line | EDJ-KQ1870 | Human | 2194 | Details Get a Quote |
| FASN Knockout HeLa Cell Line | EDJ-KQ17920 | Human | 2194 | Details Get a Quote |
| FASN Knockout A-549 Cell Line | EDJ-KQ21746 | Human | 2194 | Details Get a Quote |
| FASN Knockout HCT 116 Cell Line | EDJ-KQ21747 | Human | 2194 | Details Get a Quote |
| FASN Knockout KYSE-30 Cell Line | EDJ-KZ242 | Human | 2194 | Details Get a Quote |
| FASN Overexpression HEK293T Stable Cell Line | EDJ-GQ116 | Human | 2194 | Details Get a Quote |
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