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1-acylglycerol-3-phosphate O-acyltransferase 2

AGPAT2, LPAAT-beta, BSCL, BSCL1
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. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Insulin, ACID, CAN, HAD, leptin
Papers on AGPAT2
Case report: Dental management of Berardinelli-Seip congenital lipodystrophy.
New
Clark et al., Bradford, United Kingdom. In Eur Arch Paediatr Dent, Dec 2015
BACKGROUND: Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare autosomal recessive condition caused by mutations of the AGPAT2 gene or the BSCL2 gene.
AGPAT2 deficiency impairs adipogenic differentiation in primary cultured preadipocytes in a non-autophagy or apoptosis dependent mechanism.
New
Cortés et al., Santiago, Chile. In Biochem Biophys Res Commun, Dec 2015
AIMS: Mutations in 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) result in lipodystrophy, insulin resistance and diabetes.
Different origin of adipogenic stem cells influences the response to antiretroviral drugs.
Review
New
Cossarizza et al., Modena, Italy. In Exp Cell Res, Nov 2015
CCAAT/enhancer-binding protein alpha (CEBPα) and peroxisome proliferator-activated receptor gamma (PPARγ), and in adipocyte functions, i.e. fatty acid synthase (FASN), fatty acid binding protein-4 (FABP4), perilipin-1 (PLIN1) and 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2), were quantified by real time PCR.
Congenital generalized lipodystrophies--new insights into metabolic dysfunction.
Review
New
Garg et al., Dallas, United States. In Nat Rev Endocrinol, Sep 2015
Four distinct subtypes of CGL exist: type 1 is associated with AGPAT2 mutations; type 2 is associated with BSCL2 mutations; type 3 is associated with CAV1 mutations; and type 4 is associated with PTRF mutations.
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
New
Hilbert et al., Boston, United States. In Clin Genet, Jul 2015
Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more severe features.
Seipin oligomers can interact directly with AGPAT2 and lipin 1, physically scaffolding critical regulators of adipogenesis.
New
Rochford et al., Aberdeen, United Kingdom. In Mol Metab, Mar 2015
OBJECTIVE: Disruption of the genes encoding either seipin or 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) causes severe congenital generalized lipodystrophy (CGL) in humans.
Inborn errors of cytoplasmic triglyceride metabolism.
Review
Mitchell et al., Montréal, Canada. In J Inherit Metab Dis, 2015
We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance).
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
Huentelman et al., Phoenix, United States. In Plos One, 2014
Mutations in CAV1, encoding the main component of the caveolae in plasma membranes, cause Berardinelli-Seip congenital lipodystrophy type 3 (BSCL).
The Transcriptional Effects of PCB118 and PCB153 on the Liver, Adipose Tissue, Muscle and Colon of Mice: Highlighting of Glut4 and Lipin1 as Main Target Genes for PCB Induced Metabolic Disorders.
Villard et al., Marseille, France. In Plos One, 2014
In adipose tissue, we also showed a downregulation of Agpat2, Slc25a1, and Fasn.
Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies.
Review
Nolis, Canada. In J Hum Genet, 2014
The major genetic factors in the generalized forms of the lipodystrophies, particularly Congenital generalized lipodystrophy (CGL)-Berardinelli-Seip syndrome, are the AGPAT2, BSCL2, caveolin 1 (CAV1) and polymerase-I-and-transcriptrelease factor (PTRF) genes.
Function of seipin: new insights from Bscl2/seipin knockout mouse models.
Review
Prieur et al., Nantes, France. In Biochimie, 2014
Mutations in BSCL2/seipin cause Berardinelli-Seip congenital lipodystrophy (BSCL), a rare recessive disorder characterized by near absence of adipose tissue and severe insulin resistance.
High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.
Vogel et al., The Woodlands, United States. In Bone Res, 2013
Together, these screens identified multiple genes affecting bone mass: 23 previously reported genes (Calcr, Cebpb, Crtap, Dcstamp, Dkk1, Duoxa2, Enpp1, Fgf23, Kiss1/Kiss1r, Kl (Klotho), Lrp5, Mstn, Neo1, Npr2, Ostm1, Postn, Sfrp4, Slc30a5, Slc39a13, Sost, Sumf1, Src, Wnt10b), five novel genes extensively characterized (Cldn18, Fam20c, Lrrk1, Sgpl1, Wnt16), five novel genes with preliminary characterization (Agpat2, Rassf5, Slc10a7, Slc26a7, Slc30a10) and three novel undisclosed genes coding for potential osteoporosis drug targets.
Human 1-acylglycerol-3-phosphate O-acyltransferase isoforms 1 and 2: biochemical characterization and inability to rescue hepatic steatosis in Agpat2(-/-) gene lipodystrophic mice.
GeneRIF
Garg et al., Dallas, United States. In J Biol Chem, 2011
the role of AGPAT1 or AGPAT2 in liver lipogenesis is minimal and that accumulation of liver fat is primarily a consequence of insulin resistance
Pathology of congenital generalized lipodystrophy in Agpat2-/- mice.
GeneRIF
Shadoan et al., The Woodlands, United States. In Vet Pathol, 2011
Loss of adipocytes by necrosis and apoptosis in Agpat2 null mice
[Lysophosphatidic acid acyltransferase β gene expression in newly diagnosed leukemia patients].
GeneRIF
Lin et al., Fuzhou, China. In Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2010
lpaat beta gene overexpression exists in both AML and CML patients. lpaat beta produced by AML cells probably plays an important role in abnormal proliferation and drug-resistance of AML cells.
Lysophosphatidic acid acyltransferase β (LPAATβ) promotes the tumor growth of human osteosarcoma.
GeneRIF
He et al., Chicago, United States. In Plos One, 2009
Lysophosphatidic acid acyltransferase beta (LPAATbeta) promotes the tumor growth of human osteosarcoma
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.
GeneRIF
Magré et al., Paris, France. In Biochimie, 2009
Study showed that the cellular level of lysophosphatidic acid was increased in AGPAT2 deficient cells.
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy.
Impact
GeneRIF
Garg et al., Dallas, United States. In Cell Metab, 2009
The alternative monoacylglycerol pathway for triglyceride biosynthesis is activated in the absence of 1-acylglycerol-3-phosphate O-acyltransferase 2.
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
Impact
GeneRIF
Garg et al., Dallas, United States. In Nat Genet, 2002
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Impact
BSCL Working Group et al., Paris, France. In Nat Genet, 2001
Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance.
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