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FLASH GENE
Symbol LPIN1 contributors: mct - updated : 12-06-2016
HGNC name lipin 1
HGNC id 13345
ASSOCIATED DISORDERS
corresponding disease(s) MGAR
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in lipodystrophy
constitutional     --over  
in liver, in response to fasting and glucocorticoids
constitutional germinal mutation      
cause recurrent rhabdomyolysis in childhood, and a carrier state may predispose for statin-induced myopathy
constitutional     --low  
of total LPIN1 mRNA expression in subjects with obesity was found in visceral adipose tissue similarly to that in subcutaneous tissue
Susceptibility
  • to obesity in males
  • to statin-induced myopathy
  • Variant & Polymorphism SNP , other
  • increasing the risk of obesity in males
  • polymorphisms increasing the risk of statin-induced myopathy
  • Candidate gene lipodysytropy syndromes
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    may be a promising drug target for anticancer therapy
    ANIMAL & CELL MODELS
  • natural Lpin1 mutant mouse strain fld displays a phenotype mainly characterized by transient postnatal fatty liver (before weaning) and persistent lipodystrophy
  • concurrent Lpin1 and Nrcam mouse mutations result in severe peripheral neuropathy with transitory hindlimb paralysis
  • hearts of mice lacking lipin 1 (fld mice) exhibit accumulation of phosphatidate
  • Lpin11Hubr rats developed hypomyelination and mild lipodystrophy
  • Lipin-1-deficient fld mice exhibit lipodystrophy characterized by dramatically reduced adipose tissue mass, absence of mature adipocytes, and metabolic dysregulation
  • loss of Lpin1 in mice inhibits adipogenesis at an early stage of differentiation and results in a lipodystrophic phenotype
  • lipin-1-related myopathy in the mouse is associated with a blockade in autophagic flux and accumulation of aberrant mitochondria