基因名称(Gene Name)
LPIN1 KIAA0188
免疫原
Synthesized peptide derived from human lipin1 ser889
特异性
This antibody detects endogenous levels of lipin1 ser889 at Human, Mouse,Rat
组成
Liquid in PBS containing 50% glycerol, and 0.223% sodium azide.
来源
Polyclonal, Rabbit,IgG
纯化工艺
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
其他名称
Phosphatidate phosphatase LPIN1 (EC 3.1.3.4) (Lipin-1)
背景
This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their full-length structures have not been determined. [provided by RefSeq, May 2012],
功能
disease:Defects in LPIN1 are a cause of autosomal recessive acute recurrent myoglobinuria [MIM:268200]; also known as acute recurrent rhabdomyolysis. Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years.,function:Is involved in adipocyte differentiation.,miscellaneous:May represents a candidate gene for human lipodysytropy syndromes.,similarity:Belongs to the lipin family.,
