ALOX5AP
Arachidonate 5-Lipoxygenase Activating Protein
Gene Information Card
| Symbol | ALOX5AP |
|---|---|
| Full Name | Arachidonate 5-Lipoxygenase Activating Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.3 |
| NCBI Gene ID | 241 ncbi.nlm.nih.gov/gene/241 |
| Ensembl ID | ENSG00000132965 |
| UniProt ID | P20292 |
| OMIM ID | 603700 |
| HGNC ID | 438 |
| Aliases | FLAP, MK-886 binding protein, 5-lipoxygenase activating protein |
Description
ALOX5AP encodes the 5-lipoxygenase activating protein (FLAP), which is required for the translocation and activation of 5-lipoxygenase (5-LO) in the biosynthesis of leukotrienes from arachidonic acid. Leukotrienes are potent inflammatory mediators involved in asthma, allergic rhinitis, and cardiovascular diseases. Genetic variants in ALOX5AP have been associated with increased risk of myocardial infarction, stroke, and atherosclerosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | FLAP facilitates leukotriene synthesis; variants increase airway inflammation | NCBI Gene, OMIM |
| Myocardial Infarction | Haplotype HapA increases leukotriene production, promoting vascular inflammation and thrombosis | OMIM, ClinVar |
| Atherosclerosis | Enhanced leukotriene synthesis via FLAP contributes to plaque formation | NCBI Gene |
| Stroke | ALOX5AP variants (e.g., SG13S114) associated with ischemic stroke risk | OMIM |
| Allergic Rhinitis | Leukotriene overproduction mediated by FLAP exacerbates nasal inflammation | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.3 | Medium |
| Whole Blood | 8.7 | Medium |
| Bone Marrow | 7.9 | Low |
| Small Intestine | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (leukemia) | 15.2 | High expression |
| THP-1 (monocyte) | 11.8 | High expression |
| A549 (lung carcinoma) | 8.1 | Medium expression |
| HeLa (cervical) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| SG13S114 (rs17222814) | SNP | 0.15 (European) | Intronic; associated with increased ALOX5AP expression and cardiovascular risk |
| SG13S32 (rs4769874) | SNP | 0.12 (European) | Associated with asthma severity |
| SG13S25 (rs17222842) | SNP | 0.08 (European) | Linked to myocardial infarction risk |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in ALOX5AP.
Gain of Function (GOF)
Risk haplotypes (e.g., HapA) are associated with increased FLAP expression and leukotriene production, suggesting a gain-of-function effect.
Dominant Negative (DN)
Not described for ALOX5AP.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004620 - arachidonate 5-lipoxygenase activity | • GO:0005515 - protein binding |
| • GO:0019370 - leukotriene biosynthetic process | • GO:0006954 - inflammatory response |
| • GO:0005886 - plasma membrane |
Pathways
• Leukotriene biosynthesis (Reactome: R-HSA-2142690)
• Arachidonic acid metabolism (KEGG: hsa00590)
• Inflammatory mediator regulation of TRP channels (KEGG: hsa04750)
Protein Summary
FLAP is a 161-amino acid integral membrane protein that binds arachidonic acid and presents it to 5-lipoxygenase, enabling the synthesis of leukotriene A4. It is localized to the nuclear envelope and endoplasmic reticulum. FLAP is a target for anti-inflammatory drugs such as MK-886 and zileuton.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALOX5AP Knockout HEK293 Cell Line | EDC07759 | Human | 241 | Details Get a Quote |
| ALOX5AP Knockout A-549 Cell Line | EDJ-KQ26399 | Human | 241 | Details Get a Quote |
| ALOX5AP Knockout HeLa Cell Line | EDJ-KQ26400 | Human | 241 | Details Get a Quote |
| ALOX5AP Knockout HCT 116 Cell Line | EDJ-KQ69557 | Human | 241 | Details Get a Quote |
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