基因名称(Gene Name)
LPIN2 KIAA0249
蛋白名称
Phosphatidate phosphatase LPIN2 (EC 3.1.3.4) (Lipin-2)
免疫原
Synthesized peptide derived from human protein . at AA range: 220-300
特异性
LPIN2 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
SEPT5; PNUTL1; Septin-5; Cell division control-related protein 1; CDCrel-1; Peanut-like protein 1
背景
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],
功能
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.,
