AGMO (Alkylglycerol Monooxygenase)
Gene encoding a key enzyme in ether lipid metabolism
Gene Information Card
| Symbol | AGMO |
|---|---|
| Full Name | Alkylglycerol Monooxygenase |
| Gene Type | Protein coding |
| Chromosomal Location | 7p21.2 |
| NCBI Gene ID | 123228 ncbi.nlm.nih.gov/gene/123228 |
| Ensembl ID | ENSG00000106348 |
| UniProt ID | Q6ZNB6 |
| OMIM ID | 617647 |
| HGNC ID | HGNC:26896 |
| Aliases | TMEM195, FLJ23514 |
Description
AGMO (alkylglycerol monooxygenase) is a protein-coding gene located on chromosome 7p21.2. It encodes a membrane-bound enzyme that catalyzes the O-demethylation of alkylglycerols, a key step in the catabolism of ether lipids. The enzyme is a tetrahydrobiopterin-dependent monooxygenase and is expressed in various tissues, particularly in the liver and kidney. AGMO is involved in lipid metabolism and has been implicated in certain metabolic disorders and cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sjögren-Larsson Syndrome (SLS) | AGMO mutations may disrupt ether lipid metabolism, contributing to neurological and cutaneous symptoms. | ClinVar, OMIM |
| Hepatocellular carcinoma | Altered AGMO expression affects ether lipid levels, potentially influencing tumor growth. | COSMIC, NCBI |
| Renal cell carcinoma | Dysregulation of AGMO in kidney tissues linked to lipid metabolism changes. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 3.2 | Low |
| Testis | 2.1 | Low |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| HEK293 | 8.7 | Embryonic kidney cell line |
| A549 | 4.1 | Lung carcinoma cell line |
| MCF7 | 2.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | 0.02% | Reduced enzyme activity |
| c.200G>A (p.Gly67Glu) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations such as c.1A>G (p.Met1?) are predicted to abolish protein translation, leading to complete loss of AGMO activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for AGMO.
Dominant Negative (DN)
No dominant-negative mutations have been described for AGMO.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005783 - endoplasmic reticulum | • GO:0004497 - monooxygenase activity |
| • GO:0006629 - lipid metabolic process | • GO:0016021 - integral component of membrane |
| • GO:0050661 - NADP binding |
Pathways
• Ether lipid metabolism (Reactome: R-HSA-1483206)
• Metabolism of lipids (Reactome: R-HSA-556833)
Protein Summary
Alkylglycerol monooxygenase (AGMO) is a 445-amino acid transmembrane protein localized to the endoplasmic reticulum. It contains a conserved monooxygenase domain and requires tetrahydrobiopterin (BH4) and NADPH as cofactors. The enzyme cleaves the O-alkyl bond in alkylglycerols, producing a fatty aldehyde and glycerol. This reaction is essential for the degradation of ether lipids, which are abundant in cell membranes and signaling molecules. AGMO is highly expressed in liver and kidney, reflecting its role in lipid catabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGMO Knockout HEK293 Cell Line | EDJ-KQ12310 | Human | 392636 | Details Get a Quote |
| AGMO Knockout A-549 Cell Line | EDJ-KQ41144 | Human | 392636 | Details Get a Quote |
| AGMO Knockout HeLa Cell Line | EDJ-KQ60237 | Human | 392636 | Details Get a Quote |
| AGMO Knockout HCT 116 Cell Line | EDJ-KQ77065 | Human | 392636 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
