PNMT (Phenylethanolamine N-Methyltransferase)
Key enzyme in catecholamine biosynthesis, converting norepinephrine to epinephrine
Gene Information Card
| Symbol | PNMT |
|---|---|
| Full Name | Phenylethanolamine N-Methyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 5409 ncbi.nlm.nih.gov/gene/5409 |
| Ensembl ID | ENSG00000108433 |
| UniProt ID | P11086 |
| OMIM ID | 171190 |
| HGNC ID | 9160 |
| Aliases | PENT, PNMTase |
Description
The PNMT gene encodes phenylethanolamine N-methyltransferase, an enzyme that catalyzes the final step in catecholamine biosynthesis: the conversion of norepinephrine to epinephrine (adrenaline). PNMT is primarily expressed in the adrenal medulla and in certain brain regions. It plays a critical role in the stress response, blood pressure regulation, and neurotransmission. Genetic variations in PNMT have been associated with hypertension and psychiatric disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Altered PNMT activity may affect epinephrine levels, influencing blood pressure regulation. | ClinVar, OMIM |
| Postural Tachycardia Syndrome | Dysregulation of catecholamine synthesis due to PNMT variants may contribute to autonomic dysfunction. | NCBI Gene, OMIM |
| Bipolar Disorder | PNMT expression changes in brain regions linked to mood regulation; association studies suggest genetic risk. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal Gland | 112.5 | High |
| Brain (Medulla Oblongata) | 8.2 | Medium |
| Heart | 1.3 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Adrenal Cortex Cells | 45.6 | High expression |
| SH-SY5Y (Neuroblastoma) | 12.3 | Moderate expression |
| HEK293 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.148G>A (p.Ala49Thr) | Missense | <0.01% | Reduced enzyme activity; associated with hypertension risk |
| c.199C>T (p.Arg67Cys) | Missense | <0.01% | Decreased catalytic efficiency; linked to altered stress response |
| c.−282G>A | Promoter variant | 0.5% | Alters transcription factor binding; may affect expression levels |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Ala49Thr reduce PNMT enzymatic activity, leading to decreased epinephrine synthesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PNMT.
Dominant Negative (DN)
No evidence of dominant-negative effects for PNMT mutations.
View complete mutation data：
Gene Ontology (GO)
| • Phenylethanolamine N-methyltransferase activity | • Catecholamine biosynthetic process |
| • Response to stress | • Adrenal gland development |
| • Norepinephrine metabolic process |
Pathways
• Catecholamine biosynthesis
• Tyrosine metabolism
• Neuroactive ligand-receptor interaction
Protein Summary
Phenylethanolamine N-methyltransferase (PNMT) is a 30.4 kDa cytosolic enzyme that catalyzes the methylation of norepinephrine to epinephrine using S-adenosylmethionine as a methyl donor. The protein is highly expressed in the adrenal medulla and in specific brainstem nuclei. PNMT activity is regulated by glucocorticoids and is essential for the synthesis of epinephrine, a key hormone in the fight-or-flight response. Structural studies reveal a conserved methyltransferase fold with a substrate-binding pocket specific for phenylethanolamine derivatives.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNMT Knockout HEK293 Cell Line | EDJ-KQ2279 | Human | 5409 | Details Get a Quote |
| PNMT Knockout HeLa Cell Line | EDJ-KQ54167 | Human | 5409 | Details Get a Quote |
| PNMT Knockout A-549 Cell Line | EDJ-KQ62664 | Human | 5409 | Details Get a Quote |
| PNMT Knockout HCT 116 Cell Line | EDJ-KQ71131 | Human | 5409 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
