LPIN2

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.

Full Name

lipin 2

Function

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. Plays important roles in controlling the metabolism of fatty acids at different levels. Acts also as a nuclear transcriptional coactivator for PPARGC1A to modulate lipid metabolism.

Biological Process

Cellular lipid metabolic processManual Assertion Based On ExperimentIBA:GO_Central
Cellular response to insulin stimulusManual Assertion Based On ExperimentIBA:GO_Central
Fatty acid catabolic processManual Assertion Based On ExperimentIBA:GO_Central
Lipid metabolic processISS:UniProtKB
Positive regulation of transcription by RNA polymerase IIISS:UniProtKB
Triglyceride biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Nucleus
Cytoplasm, cytosol
Endoplasmic reticulum membrane
Translocates to endoplasmic reticulum membrane with increasing levels of oleate.

Involvement in disease

Majeed syndrome (MJDS):
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).