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FLASH GENE
Symbol PEMT contributors: npt/mct/pgu - updated : 23-09-2010
HGNC name phosphatidylethanolamine N-methyltransferase
HGNC id 8830
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • PEMT/PEM2 methyltransferase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • converting phosphatidylethanolamine to phosphatidylcholine
  • involved in hepatocyte proliferation
  • may contribute to the etiology of schizophrenia (Liu 2007)
  • catalyzing the major pathway for phosphatidylcholine biosynthesis in liver
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other regulated by estrogen in human hepatocytes
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to nonalcoholic fatty liver disease (NAFLD)
  • to schizophrenia
  • to breast cancer
  • to choline deficiency syndrome (CDS)
    • Variant & Polymorphism SNP , other
  • polymorphism V175M associated with diminished activity and may confer susceptibility to NAFLD
  • SNP increasing the risk of schizophrenia
  • variant CC genotype associated with an increased risk of breast cancer
  • polymorphism (rs12325817) most highly linked with the development of CDS (allele-specific ablation of estrogen receptor-DNA interaction in the PEMT locus prevents hormone-inducible PEMT expression, conferring risk of CDS in women)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of Pemt modestly reduced hepatic VLDL secretion in Ldlr(-/-) mice and altered the rate of VLDL clearance from plasma, attenuating atherosclerosis