Phosphate cytidylyltransferase 2, ethanolamine (PCYT2)

Phosphate cytidylyltransferase 2, ethanolamine (PCYT2) is the gene encoding ethanolamine-phosphate cytidylyltransferase, the rate-limiting enzyme in the CDP-ethanolamine branch of the Kennedy pathway for phosphatidylethanolamine (PE) synthesis[1][2][3]. PE is a major inner-leaflet membrane phospholipid involved in diverse cellular processes including membrane structure stabilization, division, apoptosis, fusion, autophagy, and signaling[1][2][3][4]. PCYT2 is essential in development and function of the nervous system: loss-of-function mutations lead to complex hereditary spastic paraplegia (SPG82) with neurological regression, spasticity, and brain atrophy[3]. Complete loss of PCYT2 activity is embryonically lethal in animal models, and heterozygous loss leads to metabolic complications such as insulin resistance, hepatic steatosis, and dyslipidemia[3][4]. Disturbances in PCYT2 activity alter etherphospholipid and plasmalogen homeostasis, affecting brain function and possibly contributing to multiple disorders including neurodegeneration and metabolic syndrome. Measurement of etherlipid levels in plasma can serve as biomarkers for PCYT2 deficiency[3].

Other names

Ethanolamine-phosphate cytidylyltransferaseCTP:phosphoethanolamine cytidylyltransferasePhosphorylethanolamine transferaseETSPG82