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FLASH GENE

Symbol

PEMT

contributors: npt/mct/pgu - updated : 23-09-2010

HGNC name	phosphatidylethanolamine N-methyltransferase
HGNC id	8830

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       predominantly Homo sapiens Reproductive female system ovary     highly   male system prostate     highly Visual eye       highly

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

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