LPIN1A gene on chromosome 2p25.1 that encodes a magnesium-dependent phosphatidate phosphatase, which:
(1) Converts phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine synthesis in the endoplasmic reticulum;
(2) Is a nuclear transcriptional coactivator for PPARGC1A/PPARA, modulating lipid metabolism-related gene expression;
(3) Is involved in adipocyte differentiation; and which
(4) May be involved in mitochondrial fission, converting phosphatidic acid to diacylglycerol.
LPIN1 mutations may cause lipodystrophy.
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