AGPAT2

(redirected from Berardinelli-Seip Congenital Lipodystrophy)
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AGPAT2

A gene on chromosome 9q34.3 that encodes 1-acylglycerol-3-phosphate O-acyltransferase 2, a member of the 1-acylglycerol-3-phosphate O-acyltransferase family, which is located in the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in phospholipid biosynthesis.

Molecular pathology
AGPAT2 mutations cause congenital generalised lipodystrophy (Berardinelli Seip syndrome) type 1.
References in periodicals archive ?
Khan, "Berardinelli-Seip congenital lipodystrophy," Indian Pediatrics, vol.
Pintos-Morell, "Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with a E158X BSCL2 mutation," European Journal of Medical Genetics, vol.
Chen, "Berardinelli-seip congenital lipodystrophy 2/seipin is not required for brown adipogenesis but regulates brown adipose tissue development and function," Molecular and Cellular Biology, vol.
Prot et al., "Seipin deficiency alters fatty acid A9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy," Biochimie, vol.
Lochmuller et al., "Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation," Annals of Neurology, vol.