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Rabbit Anti-Lipin 2 antibody
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]
Function:
Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A to modulate lipid metabolism.
Subcellular Location:
Nucleus. Cytoplasm > cytosol. Endoplasmic reticulum membrane. Translocates to endoplasmic reticulum membrane with increasing levels of oleate.
Tissue Specificity:
Expressed in liver, lung, kidney, placenta, spleen, thymus, lymph node, prostate, testes, small intestine, and colon.
DISEASE:
Defects in LPIN2 are the cause of Majeed syndrome (MAJEEDS) [MIM:609628]. An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration).
Similarity:
Belongs to the lipin family.
SWISS:
Q92539
Gene ID:
9663
Database links:
Entrez Gene: 9663 Human
Entrez Gene: 64898 Mouse
Entrez Gene: 316737 Rat
Omim: 605519 Human
SwissProt: Q92539 Human
SwissProt: Q99PI5 Mouse
Unigene: 132342 Human
Unigene: 227924 Mouse
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