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lipins


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A family of homologous proteins (lipins1, 2, and 3). Lipin-1 is a Mg2+-dependent phosphatidic acid (PA) phosphohydrolase (EC 3.1.3.4, 890 aa) that catalyses the dephosphorylation of PA to yield diacylglycerol and inorganic phosphate. Lipin is required for normal adipose tissue development, and in the mouse mutations are associated with fatty liver dystrophy, although similar associations have not been found in humans. Mutations in the lipin-1 gene are associated with autosomal recessive recurrent myoglobinuria which is postulated to arise through accumulation of lysophosphatidate and other lysophospholipids in muscle tissue, resulting in rhabdomyolysis during stress. Mutations in lipin-2 are found in patients with Majeed's syndrome.

Subjects: Medicine and Health.


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