AGMAT (Agmatinase) Gene
A comprehensive overview of the AGMAT gene, its function, expression, and associated diseases
Gene Information Card
| Symbol | AGMAT |
|---|---|
| Full Name | Agmatinase |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.21 |
| NCBI Gene ID | 79814 ncbi.nlm.nih.gov/gene/79814 |
| Ensembl ID | ENSG00000116774 |
| UniProt ID | Q9BSE5 |
| OMIM ID | 610111 |
| HGNC ID | 24088 |
| Aliases | FLJ12443, MGC138499 |
Description
The AGMAT gene encodes agmatinase, a mitochondrial enzyme that catalyzes the hydrolysis of agmatine to putrescine and urea. Agmatine is a polyamine precursor and a neuromodulator. AGMAT is involved in polyamine biosynthesis and regulation of nitric oxide synthase activity. The gene is located on chromosome 1p36.21 and is expressed in various tissues, with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered AGMAT expression may affect polyamine levels, influencing cell proliferation and tumor growth. | PubMed: 25720465 |
| Schizophrenia | Agmatine modulates NMDA receptors and nitric oxide signaling; AGMAT variants may contribute to neuropsychiatric risk. | PubMed: 21300939 |
| Bipolar disorder | Agmatine dysregulation has been implicated in mood disorders; AGMAT expression changes observed in postmortem brain. | PubMed: 21300939 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 3.1 | Low |
| Small intestine | 2.8 | Low |
| Testis | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 8.4 | Liver cancer cell line |
| HEK293 | 2.1 | Embryonic kidney cells |
| SH-SY5Y | 1.8 | Neuroblastoma cells |
| HeLa | 0.9 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Likely benign; no known functional effect |
| c.235C>T | Nonsense | <0.01% | Predicted loss of function; rare |
| c.456G>A | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.235C>T) are predicted to cause loss of agmatinase activity, potentially disrupting polyamine homeostasis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for AGMAT.
Dominant Negative (DN)
No dominant-negative mutations have been described for AGMAT.
View complete mutation data：
Gene Ontology (GO)
| • agmatinase activity | • manganese ion binding |
| • polyamine biosynthetic process | • putrescine biosynthetic process |
| • mitochondrion |
Pathways
• Polyamine biosynthesis
• Arginine and proline metabolism
Protein Summary
Agmatinase is a 352-amino acid mitochondrial enzyme that converts agmatine to putrescine and urea. It belongs to the arginase family and requires manganese as a cofactor. The protein plays a key role in polyamine metabolism and modulates nitric oxide signaling by regulating agmatine levels. Its expression is highest in liver and kidney, and it is implicated in cancer and neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGMAT Knockout HEK293 Cell Line | EDJ-KQ12309 | Human | 79814 | Details Get a Quote |
| AGMAT Knockout A-549 Cell Line | EDJ-KQ41142 | Human | 79814 | Details Get a Quote |
| AGMAT Knockout HeLa Cell Line | EDJ-KQ41143 | Human | 79814 | Details Get a Quote |
| AGMAT Knockout HCT 116 Cell Line | EDJ-KQ74164 | Human | 79814 | Details Get a Quote |
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