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Article

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

Nature genetics - 1 May 2002

Agarwal Anil K, Arioglu Elif, De Almeida Salome, Akkoc Nurullah, Taylor Simeon I, Bowcock Anne M, Barnes Robert I, Garg Abhimanyu

Abstract excerpt

Congenital generalized lipodystrophy is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. 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 showing...

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Share to 1-Acylglycerol-3-Phosphate O-Acyltransferase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 9

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Source

Identifiers

PMID: 11967537
DOI: 10.1038/ng880

Genes

AGPAT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.PMID 11967537Read ↗

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