LTA4H
Leukotriene A4 Hydrolase
Gene Information Card
| Symbol | LTA4H |
|---|---|
| Full Name | Leukotriene A4 Hydrolase |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q23.1 |
| NCBI Gene ID | 4048 ncbi.nlm.nih.gov/gene/4048 |
| Ensembl ID | ENSG00000111144 |
| UniProt ID | P09960 |
| OMIM ID | 151570 |
| HGNC ID | 6710 |
| Aliases | LTA4, LTA4H, LTA4H1, LTA4H2 |
Description
The LTA4H gene encodes leukotriene A4 hydrolase, a bifunctional zinc metalloenzyme that catalyzes the final step in the biosynthesis of leukotriene B4 (LTB4), a potent pro-inflammatory lipid mediator. The enzyme also possesses aminopeptidase activity. LTA4H is expressed in various tissues and cells, particularly in immune cells, and plays a key role in inflammation and immune responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| LTA4H deficiency | Loss-of-function mutations in LTA4H impair LTB4 synthesis, leading to reduced neutrophil chemotaxis and increased susceptibility to infections. | ClinVar, OMIM |
| Asthma | Polymorphisms in LTA4H are associated with altered LTB4 levels and asthma susceptibility. | NCBI Gene, OMIM |
| Inflammatory bowel disease | LTA4H variants may influence LTB4 production and intestinal inflammation. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 15.3 | Medium |
| Bone marrow | 18.7 | High |
| Whole blood | 22.1 | High |
| Small intestine | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 25.4 | High expression |
| HL-60 (neutrophil-like) | 30.2 | High expression |
| HeLa (cervical) | 6.8 | Low expression |
| A549 (lung) | 10.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1300C>T (p.Arg434Cys) | Missense | Rare | Loss of enzymatic activity; associated with LTA4H deficiency |
| c.1097G>A (p.Arg366His) | Missense | Rare | Reduced LTB4 synthesis; linked to immunodeficiency |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that reduce or abolish LTB4 synthesis, leading to LTA4H deficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • leukotriene A4 hydrolase activity | • aminopeptidase activity |
| • zinc ion binding | • inflammatory response |
| • leukotriene biosynthetic process | • proteolysis |
Pathways
• Leukotriene biosynthesis
• Arachidonic acid metabolism
• Eicosanoid metabolism
Protein Summary
Leukotriene A4 hydrolase is a 610-amino-acid zinc metalloenzyme that converts leukotriene A4 to leukotriene B4. It also exhibits aminopeptidase activity. The protein is expressed in immune cells and contributes to inflammatory signaling. Mutations in LTA4H cause primary immunodeficiency due to impaired LTB4 production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LTA4H Knockout HEK293 Cell Line | EDJ-KQ5147 | Human | 4048 | Details Get a Quote |
| LTA4H Knockout A-549 Cell Line | EDJ-KQ28116 | Human | 4048 | Details Get a Quote |
| LTA4H Knockout HCT 116 Cell Line | EDJ-KQ28117 | Human | 4048 | Details Get a Quote |
| LTA4H Knockout HeLa Cell Line | EDJ-KQ28118 | Human | 4048 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
