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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

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