FADS3: Fatty Acid Desaturase 3
A key enzyme in polyunsaturated fatty acid biosynthesis with roles in lipid metabolism and potential links to metabolic disorders.
Gene Information Card
| Symbol | FADS3 |
|---|---|
| Full Name | Fatty Acid Desaturase 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 3995 ncbi.nlm.nih.gov/gene/3995 |
| Ensembl ID | ENSG00000121966 |
| UniProt ID | Q9Y5Q0 |
| OMIM ID | 606148 |
| HGNC ID | 3576 |
| Aliases | FADS3, delta-6 desaturase-like, fatty acid desaturase 3 |
Description
FADS3 (Fatty Acid Desaturase 3) encodes a member of the fatty acid desaturase (FADS) gene family. This enzyme is involved in the biosynthesis of polyunsaturated fatty acids (PUFAs), catalyzing the introduction of double bonds at specific positions in fatty acid chains. FADS3 is primarily expressed in liver, brain, and adipose tissue, and its activity influences the composition of cellular membranes and lipid signaling molecules. Genetic variants in FADS3 have been associated with altered lipid profiles and metabolic traits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic syndrome | Altered PUFA metabolism due to FADS3 variants may contribute to dyslipidemia and insulin resistance. | PMID: 23493627 |
| Cardiovascular disease | Polymorphisms in FADS3 are linked to changes in serum fatty acid composition and cardiovascular risk factors. | PMID: 23493627 |
| Type 2 diabetes | FADS3 expression and variants have been associated with glucose homeostasis and diabetes risk in population studies. | PMID: 23493627 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Adipose tissue | 6.7 | Low |
| Kidney | 4.2 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 9.8 | Neuroblastoma cell line |
| 3T3-L1 | 7.4 | Adipocyte precursor cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs174455 | SNP | 0.15 (Global) | Associated with altered desaturase activity and lipid profiles |
| rs174450 | SNP | 0.12 (Global) | Linked to changes in serum PUFA levels |
| rs174449 | SNP | 0.10 (Global) | Potential impact on FADS3 expression |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for FADS3.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • delta-6 desaturase activity (GO:0016215) | • unsaturated fatty acid biosynthetic process (GO:0006636) |
| • integral component of membrane (GO:0016021) | • endoplasmic reticulum membrane (GO:0005789) |
Pathways
• Reactome: Fatty acid metabolism (R-HSA-8978868)
• KEGG: Biosynthesis of unsaturated fatty acids (hsa01040)
Protein Summary
FADS3 is a 445-amino acid protein localized to the endoplasmic reticulum membrane. It belongs to the fatty acid desaturase family and contains a cytochrome b5-like heme-binding domain. The enzyme introduces double bonds into fatty acid chains, with a preference for delta-6 desaturation of linoleic acid and alpha-linolenic acid. Its activity is critical for the production of long-chain PUFAs such as arachidonic acid and docosahexaenoic acid.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FADS3 Knockout HEK293 Cell Line | EDJ-KQ4350 | Human | 3995 | Details Get a Quote |
| FADS3 Knockout A-549 Cell Line | EDJ-KQ28083 | Human | 3995 | Details Get a Quote |
| FADS3 Knockout HCT 116 Cell Line | EDJ-KQ28085 | Human | 3995 | Details Get a Quote |
| FADS3 Knockout HeLa Cell Line | EDJ-KQ28086 | Human | 3995 | Details Get a Quote |
