2024年12月25日 · LPIN1 (Lipin 1) is a Protein Coding gene. Diseases associated with LPIN1 include Myoglobinuria, Acute Recurrent, Autosomal Recessive and Genetic Recurrent Myoglobinuria. Among its related pathways are Cell Cycle, Mitotic and …

随后，磷脂酸通过磷脂酸磷酸酶lipin1（LPIN1）和二酰基甘油酰基转移酶（DGAT）被重新定向到不同磷脂的合成或TAG。 由于LD不仅储存中性脂质，而且通过与过氧化物酶体和线粒体的相互作用提供能量来源，LD似乎整合了细胞的合成代谢和分解代谢（方框2）。

Homozygous mutations in LPIN1 gene in humans cause recurrent rhabdomyolysis and exercise-induced myalgia while carrier state may predispose for statin-induced myopathy. [15] [16] This gene also represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. Mouse ...

磷脂酸磷酸水解酶 (Lipid phosphate phosphohydrolase)基因,也称为脂素基因 (LPIN),是新近发现的一个可以双向调控机体脂肪代谢的一个基因家族.这个基因家族包括LPIN 1,LPIN 2,LPIN 3 (哺乳动物),其中LPIN 1基因是调控脂肪组织形成与分化的关键基因,LPIN 1基因表达具有影响脂肪沉积的效应,LPIN 1基因的不表达,正常表达,过量表达均能引起脂肪沉积的剧烈变化.本文主要从LPIN 1基因的结构和功能等方面对LPIN 1基因的最新研究进展进行了简要综述. 百度学术集成海量学术资 …

2022年2月11日 · Studies on 3T3-L1 cells and HepG2 hepatocytes have shown that phosphatidic acid phosphohydrolase1 (LPIN1) plays a key role in adipogenesis, acting as a co-activator of peroxisome...

该基因的突变与代谢综合征、2 型糖尿病、急性复发性横纹肌溶解症和常染色体隐性急性复发性肌红蛋白尿症 (ARARM) 相关。 该基因也是几种人类脂肪营养不良综合征的候选基因。 [RefSeq 提供，2017 年 3 月] 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.

脂素基因(LPIN)是新近发现的双向调控身体脂肪的一个基因家族,至少包括LPIN1,LPIN2,LPIN3 3个成员.其蛋白产物称为脂素(lipin).该蛋白家族在不同组织发挥相似的功能,主要有两个作用:一是作为磷脂酸磷酸酶(PAP)1发挥甘油三酯、磷脂合成作用,二是作为转录协同刺激因子 ...

Since more than 50% of our series harboured LPIN1 mutations, LPIN1 should be regarded as a major cause of severe myoglobinuria in early childhood. The high frequency of the intragenic LPIN1 deletion should provide a valuable criterion for fast diagnosis, prior to muscle biopsy.

Mutations in LPIN1 mainly cause myoglobinuria, myopathy lipid metabolism disorders and type 2 diabetes mellitus in human. This review focuses on the molecular mechanisms of four kinds of human diseases caused by LPIN1, which will provide a reference for further research of LPIN1 function and the clinical diagnosis and treatment of related diseases.

Lpin1基因的主要功能及调控路径-体内脂肪的过量堆积会带来一系列生理功能的改变,包括高胆固醇血症、高甘油三酯、胰岛素抵抗、外周血管阻力增高等。