Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008],
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Function:
Disease:Defects in LPIN2 are the cause of Majeed syndrome [MIM:609628]. Majeed syndrome is an autosomal recessive disorder combining features of chronic recurrent multifocal osteomyelitis [MIM:259680], congenital dyserythropoietic anemia and inflammatory dermatosis.,online information:Repertory of FMF and hereditary autoinflammatory disorders mutations,similarity:Belongs to the lipin family.,tissue specificity:Expressed in liver, lung, kidney, placenta, spleen, thymus, lymph node, prostate, testes, small intestine, and colon.,
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Cellular Localization:
Nucleus . Cytoplasm, cytosol . Endoplasmic reticulum membrane . Translocates to endoplasmic reticulum membrane with increasing levels of oleate. .
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Tissue Expression:
Expressed in liver, lung, kidney, placenta, spleen, thymus, lymph node, prostate, testes, small intestine, and colon.