PEMT
Chr 17phosphatidylethanolamine N-methyltransferase
Also known as: PEAMT, PEMPT, PEMT2, PLMT
Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
This gene — mechanism propensity
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PEMT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Predicting IBD Treatment Outcomes With Gut Microbiome Analysis
RECRUITINGAnti-Inflammatory Diet in BRC Patients on Aromatase Inhibitors
RECRUITINGTalimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers
ACTIVE NOT RECRUITINGImmun Checkpoint Washout in Patients With Invasive Ductal Breast Cancer
RECRUITINGPersonalized Exercise Coaching to Improve Quality of Life in Pediatric IBD
ACTIVE NOT RECRUITINGA Clinical Study of TQB2029 for Injection in Subjects With Multiple Myeloma
RECRUITINGConstruction and Evaluation of Tumor Immunotherapy and Organ Damage Early Warning System Based on Multi-omics
RECRUITINGMicrobiota Transfer for Chronic Rhinosinusitis
ACTIVE NOT RECRUITINGCrosstalk Between Mucosal-Associated Invariant T (MAIT) Cells and the Gut Microbiota and Mucosa in the Development of Type 1 Diabetes in Children
RECRUITINGAntihypertensive Mechanisms of Minocycline in Resistant Hypertension
RECRUITINGImpact Of Intermittent And Water-Only Fasting On Gene Expression And Tumor Markers In Breast Cancer
ACTIVE NOT RECRUITINGMucinB5 Gene Polymorphism and Leucocytes Telomere Length in Interstitial Lung Diseases
RECRUITINGExternal Resources
Links to major genomics databases and tools