AGPAT2

AGPAT2 encodes 1-acylglycerol-3-phosphate O-acyltransferase 2, also known as LPAAT-theta. It catalyzes the acylation of lysophosphatidic acid (LPA) to form phosphatidic acid (PA)—a key intermediate in glycerophospholipid and triglyceride biosynthesis. PA also acts as a lipid second messenger, modulating pathways like PI3K/Akt and mTOR that regulate cell growth and metabolic homeostasis.
Mutations in AGPAT2 cause congenital generalized lipodystrophy type 2 (CGL2), characterized by near-total adipose tissue loss, insulin resistance, hypertriglyceridemia, and hepatic steatosis. Currently, no targeted therapies exist; management focuses on symptomatic control (e.g., insulin sensitizers, lipid-lowering drugs). Research is ongoing to develop enzyme replacement or small-molecule modulators for CGL2.