ALOX12
Arachidonate 12-Lipoxygenase, 12S-Type
Gene Information Card
| Symbol | ALOX12 |
|---|---|
| Full Name | Arachidonate 12-Lipoxygenase, 12S-Type |
| Gene Type | Protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 239 ncbi.nlm.nih.gov/gene/239 |
| Ensembl ID | ENSG00000108839 |
| UniProt ID | P18054 |
| OMIM ID | 152391 |
| HGNC ID | 429 |
| Aliases | 12-LOX, 12S-LOX, LOG12, LOX12 |
Description
ALOX12 encodes arachidonate 12-lipoxygenase (12S-LOX), an enzyme that catalyzes the dioxygenation of arachidonic acid to 12S-hydroperoxyeicosatetraenoic acid (12S-HPETE). This enzyme is primarily expressed in platelets and is involved in eicosanoid metabolism, inflammation, and cell signaling. Mutations and altered expression of ALOX12 have been implicated in cardiovascular diseases, cancer, and inflammatory disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | Altered 12S-HETE production affects platelet aggregation and vascular inflammation | ClinVar, OMIM |
| Colorectal cancer | Upregulation of 12S-LOX promotes tumor growth and angiogenesis | COSMIC, NCBI Gene |
| Psoriasis | Increased 12S-HETE levels contribute to skin inflammation | OMIM, UniProt |
| Atherosclerosis | 12S-LOX activity modulates oxidative stress and lipid peroxidation | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Platelets | High | High |
| Bone marrow | Moderate | Medium |
| Lung | Low | Low |
| Colon | Low | Low |
| Skin | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | Low | Low endogenous expression |
| K562 (leukemia) | Moderate | Expressed in erythroleukemia cells |
| HCT 116 (colon cancer) | Low | Detectable by RT-PCR |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg261Gln | Missense | Rare | Reduced enzyme activity, associated with platelet dysfunction |
| p.Thr246Met | Missense | Rare | Unknown functional effect |
| c.1621C>T | Synonymous | Rare | No known effect |
Mutation functional classification
Loss of Function (LOF)
p.Arg261Gln reduces catalytic activity, impairing 12S-HPETE production.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ALOX12.
Dominant Negative (DN)
No dominant-negative mutations described for ALOX12.
View complete mutation data：
Gene Ontology (GO)
| • ['GO:0004052' | • 'arachidonate 12-lipoxygenase activity'] |
| • ['GO:0005506' | • 'iron ion binding'] |
| • ['GO:0019372' | • 'lipoxygenase pathway'] |
| • ['GO:0006631' | • 'fatty acid metabolic process'] |
| • ['GO:0005737' | • 'cytoplasm'] |
Pathways
• ['Arachidonic acid metabolism (KEGG hsa00590)']
• ['Eicosanoid synthesis (Reactome R-HSA-2142753)']
• ['Platelet activation
• signaling and aggregation (Reactome R-HSA-76002)']
Protein Summary
The ALOX12 protein (12S-lipoxygenase) is a 663-amino-acid enzyme containing a non-heme iron cofactor. It catalyzes the stereospecific oxygenation of arachidonic acid at carbon 12 to produce 12S-HPETE, which is further reduced to 12S-HETE. The protein is localized in the cytoplasm and is highly expressed in platelets. Its activity is regulated by calcium and cellular redox state.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALOX12 Knockout HEK293 Cell Line | EDJ-KQ4042 | Human | 239 | Details Get a Quote |
| ALOX12B Knockout HEK293 Cell Line | EDC07792 | Human | 242 | Details Get a Quote |
| ALOX12B Knockout HCT 116 Cell Line | EDJ-KQ26396 | Human | 242 | Details Get a Quote |
| ALOX12 Knockout HeLa Cell Line | EDJ-KQ52596 | Human | 239 | Details Get a Quote |
| ALOX12B Knockout HeLa Cell Line | EDJ-KQ52598 | Human | 242 | Details Get a Quote |
| ALOX12 Knockout A-549 Cell Line | EDJ-KQ61073 | Human | 239 | Details Get a Quote |
| ALOX12B Knockout A-549 Cell Line | EDJ-KQ61075 | Human | 242 | Details Get a Quote |
| ALOX12 Knockout HCT 116 Cell Line | EDJ-KQ69556 | Human | 239 | Details Get a Quote |
| ALOX12 Knockout HAP1 Cell Line | EDC08308 | Human | 239 | Details Get a Quote |
| ALOX12 Overexpression TM4-KO-alox12 Stable Cell Line | EDC01493 | Mouse | 239 | Details Get a Quote |
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