FAAH (Fatty Acid Amide Hydrolase) Gene
Key regulator of endocannabinoid signaling and pain modulation
Gene Information Card
| Symbol | FAAH |
|---|---|
| Full Name | Fatty Acid Amide Hydrolase |
| Gene Type | Protein coding |
| Chromosomal Location | 1p33 |
| NCBI Gene ID | 2166 ncbi.nlm.nih.gov/gene/2166 |
| Ensembl ID | ENSG00000117480 |
| UniProt ID | O00519 |
| OMIM ID | 602935 |
| HGNC ID | 3554 |
| Aliases | FAAH1, PSAB, FAAH-1 |
Description
The FAAH gene encodes fatty acid amide hydrolase, an integral membrane enzyme that hydrolyzes bioactive fatty acid amides, including the endocannabinoid anandamide. It plays a critical role in modulating pain, inflammation, anxiety, and memory. Genetic variants in FAAH are associated with altered endocannabinoid signaling and various neurological and psychiatric disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anxiety disorders | Reduced FAAH activity increases anandamide levels, modulating anxiety-related circuits | ClinVar, OMIM |
| Chronic pain | FAAH polymorphisms affect pain sensitivity and response to analgesics | ClinVar, NCBI |
| Substance use disorder | FAAH variants influence reward pathways and addiction risk | OMIM, NCBI |
| Obesity | FAAH expression in adipose tissue correlates with metabolic regulation | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Liver | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Small intestine | 4.7 | Low |
| Adipose tissue | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 9.8 | Neuronal model |
| HepG2 | 7.4 | Liver model |
| Caco-2 | 5.1 | Intestinal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.385C>A (p.Pro129Thr) | Missense | 0.05 | Reduced enzyme activity, associated with anxiety |
| c.1361A>G (p.Gln454Arg) | Missense | 0.02 | Altered substrate specificity |
| c.973C>T (p.Arg325Cys) | Missense | 0.01 | Decreased catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
p.Pro129Thr reduces FAAH activity, increasing anandamide levels.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Not described for FAAH.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0016787) | • fatty acid amide hydrolase activity (GO:0017069) |
| • plasma membrane (GO:0005886) | • cytoplasm (GO:0005737) |
| • response to stimulus (GO:0050896) | • signal transduction (GO:0007165) |
Pathways
• Endocannabinoid signaling (Reactome R-HSA-373753)
• Fatty acid metabolism (KEGG hsa00071)
Protein Summary
FAAH is a 579-amino acid integral membrane protein with a single transmembrane domain. It belongs to the amidase signature family and catalyzes the hydrolysis of anandamide and other bioactive amides. The enzyme is expressed in brain, liver, and other tissues, and its activity regulates endocannabinoid tone. Structural studies reveal a dimeric organization with a catalytic serine-lysine dyad.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAAH Knockout HEK293 Cell Line | EDJ-KQ2275 | Human | 2166 | Details Get a Quote |
| FAAH2 Knockout HEK293 Cell Line | EDJ-KQ13349 | Human | 158584 | Details Get a Quote |
| FAAH Knockout A-549 Cell Line | EDJ-KQ21290 | Human | 2166 | Details Get a Quote |
| FAAH Knockout HCT 116 Cell Line | EDJ-KQ22622 | Human | 2166 | Details Get a Quote |
| FAAH2 Knockout HeLa Cell Line | EDJ-KQ41598 | Human | 158584 | Details Get a Quote |
| FAAH2 Knockout HCT 116 Cell Line | EDJ-KQ42830 | Human | 158584 | Details Get a Quote |
| Faah Knockout MC-38 Cell Line | EDJ-KZ227 | Mouse | 2166 | Details Get a Quote |
| FAAH Knockout HeLa Cell Line | EDJ-KQ53194 | Human | 2166 | Details Get a Quote |
| FAAH2 Knockout A-549 Cell Line | EDJ-KQ67271 | Human | 158584 | Details Get a Quote |
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