Gene: PEMT

Alternate names for this Gene: PEAMT|PEMPT|PEMT2|PLMT|PNMT

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: phosphatidylethanolamine N-methyltransferase

Type of Gene: protein-coding

rs11656215 in PEMT gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.

rs4646342 in PEMT gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.