AOAH Gene - Acyloxyacyl Hydrolase
Gene encoding a lipopolysaccharide (LPS)-detoxifying enzyme involved in immune regulation and inflammatory response.
Gene Information Card
| Symbol | AOAH |
|---|---|
| Full Name | Acyloxyacyl Hydrolase |
| Gene Type | Protein-coding |
| Chromosomal Location | 7p14.2 |
| NCBI Gene ID | 313 ncbi.nlm.nih.gov/gene/313 |
| Ensembl ID | ENSG00000106331 |
| UniProt ID | P28039 |
| OMIM ID | 102560 |
| HGNC ID | 546 |
| Aliases | LPSH, ACPD, acyloxyacyl hydrolase (neutrophil) |
Description
The AOAH gene encodes acyloxyacyl hydrolase, an enzyme that catalyzes the removal of secondary acyl chains from the lipid A moiety of bacterial lipopolysaccharides (LPS), thereby detoxifying LPS and attenuating the host inflammatory response. It is primarily expressed in neutrophils, macrophages, and dendritic cells, and plays a critical role in immune homeostasis and prevention of endotoxin shock.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease (IBD) | Reduced AOAH activity may impair LPS detoxification, leading to chronic intestinal inflammation. | PMID: 25748677 |
| Sepsis | Loss-of-function variants in AOAH are associated with increased susceptibility to endotoxin shock and poor outcomes. | PMID: 23300459 |
| Asthma | Polymorphisms in AOAH have been linked to altered LPS responsiveness and asthma severity. | PMID: 20032319 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Liver | 6.1 | Low |
| Whole blood | 4.2 | Low |
| Small intestine | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | High expression; LPS-inducible |
| HL-60 (neutrophil-like) | 10.5 | High expression |
| A549 (lung epithelial) | 2.1 | Low expression |
| HepG2 (hepatocyte) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.506C>T (p.Thr169Ile) | Missense | 0.02% (gnomAD) | Reduced enzymatic activity; associated with altered LPS response |
| c.1129G>A (p.Gly377Ser) | Missense | 0.01% (gnomAD) | Decreased stability and catalytic efficiency |
| c.1465_1466del (p.Leu489fs) | Frameshift | <0.01% | Loss of function; predicted null allele |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants leading to truncated or absent protein; associated with impaired LPS detoxification and increased inflammation.
Gain of Function (GOF)
Not reported for AOAH.
Dominant Negative (DN)
Not reported for AOAH.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0016787) | • lipopolysaccharide binding (GO:0042834) |
| • innate immune response (GO:0045087) | • response to lipopolysaccharide (GO:0032496) |
| • cytoplasm (GO:0005737) |
Pathways
• Toll-like receptor signaling pathway (Reactome: R-HSA-168898)
• MyD88-independent cascade (Reactome: R-HSA-166058)
• Detoxification of Reactive Oxygen Species (Reactome: R-HSA-3299685)
Protein Summary
Acyloxyacyl hydrolase (AOAH) is a 60 kDa glycoprotein composed of two subunits (large and small) derived from a single precursor. It is localized to lysosomes and secreted by neutrophils and macrophages. The enzyme specifically removes secondary acyl chains from lipid A, reducing LPS toxicity without destroying its structure. This activity is essential for preventing excessive inflammation and endotoxin tolerance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AOAH Knockout HEK293 Cell Line | EDJ-KQ932 | Human | 313 | Details Get a Quote |
| AOAH Knockout HCT 116 Cell Line | EDJ-KQ19910 | Human | 313 | Details Get a Quote |
| AOAH Knockout HeLa Cell Line | EDJ-KQ52622 | Human | 313 | Details Get a Quote |
| AOAH Knockout A-549 Cell Line | EDJ-KQ61099 | Human | 313 | Details Get a Quote |
