Lipin 2 (LPIN2) Antibody – Goat Polyclonal

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]

LPIN2: 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. Defects in LPIN2 are the cause of Majeed syndrome (MAJEEDS). 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). Belongs to the lipin family.

Protein type: EC 3.1.3.4; Phosphatase (non-protein); Transcription, coactivator/corepressor

Chromosomal Location of Human Ortholog: 18p11.31

Cellular Component: cytosol; endoplasmic reticulum membrane; nucleus

Molecular Function: phosphatidate phosphatase activity; transcription coactivator activity

Biological Process: dephosphorylation; fatty acid catabolic process; lipid metabolic process; phosphatidylcholine biosynthetic process; phosphatidylethanolamine biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent; triacylglycerol biosynthetic process

Disease: Majeed Syndrome