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Symbol LPIN1 contributors: mct - updated : 12-06-2016
HGNC name lipin 1
HGNC id 13345
  • 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