Dec 24, 2024 · AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2) is a Protein Coding gene. Diseases associated with AGPAT2 include Lipodystrophy, Congenital Generalized, Type 1 and Congenital Generalized Lipodystrophy. Among its related pathways are Epigenetic regulation by WDR5-containing histone modifying complexes and Glycerophospholipid biosynthesis.

Nov 25, 2021 · AGPAT2 is the only AGPAT isoform whose loss-of-function mutations cause a severe form of human congenital generalized lipodystrophy. Paradoxically, AGPAT2 deficiency is known to dramatically...

The AGPAT2 gene provides instructions for making an enzyme that is found in many of the body's cells and tissues. It plays a critical role in the growth and development of adipocytes, which are cells that store fats for energy.

Feb 8, 2025 · AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis.

AGPAT2 is a key enzyme involved in triglyceride and phospholipid biosynthesis and, thus, the discovery of AGPAT2 mutations has heightened interest in the biochemical pathways of triglyceride synthesis and their implications in human physiology and in the pathophysiology of obesity, lipodystrophies and other adipose tissue disorders.

Apr 22, 2002 · We report several different mutations of the gene (AGPAT2) encoding 1-acylglycerol-3-phosphate O-acyltransferase 2 in 20 affected individuals from 11 pedigrees of diverse ethnicities...

Jun 27, 2023 · The AGPAT2 enzyme catalyzes an essential reaction in the biosynthetic pathway of glycerophospholipids and triacylglycerol. Agarwal et al. (2002) suggested that the AGPAT2 enzyme is likely to affect triacylglycerol synthesis in adipose tissue, and that mutations may cause lipodystrophy by resulting in triglyceride-depleted adipocytes.

Jan 4, 2025 · Clinical resource with information about AGPAT2, Congenital generalized lipodystrophy type 1, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Sep 1, 2018 · We show that expression of acylglycerol-3-phosphate acyltransferase 2 (AGPAT2), also known as lysophosphatidic acid acyltransferase β (LPAATβ), was upregulated under hypoxia and this was impaired by siRNA-mediated knockdown of HIF-1α.

The mRNA and protein levels of monoacylglycerol acyltransferase (MGAT) isoform 1 were markedly increased in the livers of AGPAT2 −/− mice, suggesting that an alternative MAG pathway for TAG biosynthesis was activated in the absence of AGPAT2.