PEMT Gene: Phosphatidylethanolamine N-Methyltransferase
Key enzyme in phosphatidylcholine biosynthesis and lipid metabolism
Gene Information Card
| Symbol | PEMT |
|---|---|
| Full Name | Phosphatidylethanolamine N-Methyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 10400 ncbi.nlm.nih.gov/gene/10400 |
| Ensembl ID | ENSG00000133027 |
| UniProt ID | Q9UBM1 |
| OMIM ID | 602391 |
| HGNC ID | 8830 |
| Aliases | PEMT2, PNMT |
Description
The PEMT gene encodes phosphatidylethanolamine N-methyltransferase, an enzyme that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine via three sequential methylations using S-adenosylmethionine as the methyl donor. This enzyme is primarily expressed in the liver and plays a critical role in phospholipid metabolism, membrane integrity, and very low-density lipoprotein (VLDL) secretion. PEMT deficiency is associated with hepatic steatosis, altered lipid profiles, and potential links to non-alcoholic fatty liver disease (NAFLD) and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-alcoholic fatty liver disease (NAFLD) | Reduced PEMT activity impairs phosphatidylcholine synthesis, leading to hepatic lipid accumulation and steatosis | PMID: 16446361; GWAS studies |
| Hepatic steatosis | Loss of PEMT function disrupts VLDL secretion, causing triglyceride buildup in hepatocytes | Mouse knockout models (PMID: 12529545) |
| Alzheimer's disease | Altered phospholipid metabolism and homocysteine levels may contribute to neurodegeneration | Association studies (PMID: 19176475) |
| Cardiovascular disease | PEMT polymorphisms influence plasma homocysteine and lipid levels, affecting cardiovascular risk | PMID: 17636062 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 1.2 | Low |
| Brain | 0.8 | Low |
| Heart | 0.5 | Low |
| Skeletal Muscle | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 0.6 | Embryonic kidney cells |
| SH-SY5Y | 0.4 | Neuroblastoma cells |
| Caco-2 | 0.2 | Colorectal adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs7946 (V175M) | Missense | ~30% in East Asians | Reduced enzyme activity; associated with NAFLD risk |
| rs12325817 (G-523A) | Promoter variant | ~20% in Europeans | Alters transcription; linked to choline requirement |
| rs4646344 (Ile100Val) | Missense | <5% globally | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
rs7946 (V175M) reduces catalytic activity, impairing phosphatidylcholine synthesis and promoting hepatic steatosis.
Gain of Function (GOF)
No documented gain-of-function mutations in PEMT.
Dominant Negative (DN)
Not reported for PEMT.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylethanolamine N-methyltransferase activity (GO:0004606) | • phosphatidylcholine biosynthetic process (GO:0006656) |
| • endoplasmic reticulum (GO:0005783) | • mitochondrion (GO:0005739) |
| • lipid metabolic process (GO:0006629) |
Pathways
• Phosphatidylcholine biosynthesis (Reactome: R-HSA-1483191)
• Glycerophospholipid metabolism (KEGG: hsa00564)
• Methionine metabolism and choline pathway
Protein Summary
Phosphatidylethanolamine N-methyltransferase (PEMT) is a 199-amino acid protein localized to the endoplasmic reticulum and mitochondria-associated membranes. It catalyzes the three-step methylation of phosphatidylethanolamine to phosphatidylcholine, a major membrane phospholipid. The enzyme is highly expressed in liver and is essential for VLDL secretion and lipid homeostasis. PEMT deficiency leads to hepatic steatosis and altered choline metabolism. The protein contains a conserved methyltransferase domain and is regulated by S-adenosylmethionine levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEMT Knockout HEK293 Cell Line | EDJ-KQ3633 | Human | 10400 | Details Get a Quote |
| PEMT Knockout A-549 Cell Line | EDJ-KQ25577 | Human | 10400 | Details Get a Quote |
| PEMT Knockout HCT 116 Cell Line | EDJ-KQ25578 | Human | 10400 | Details Get a Quote |
| PEMT Knockout HeLa Cell Line | EDJ-KQ25579 | Human | 10400 | Details Get a Quote |
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