Aliases for PEMT Gene
External Ids for PEMT Gene
Previous GeneCards Identifiers for PEMT Gene
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]
GeneCards Summary for PEMT Gene
PEMT (Phosphatidylethanolamine N-Methyltransferase) is a Protein Coding gene. Diseases associated with PEMT include Choline Deficiency Disease and Fatty Liver Disease. Among its related pathways are Acetylcholine Synthesis and Synthesis of PC. Gene Ontology (GO) annotations related to this gene include N-methyltransferase activity and phosphatidylethanolamine N-methyltransferase activity.
UniProtKB/Swiss-Prot Summary for PEMT Gene
Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidylmonomethylethanolamine (PMME), PMME to phosphatidyldimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC).