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FLASH GENE

Symbol

LPIN1

contributors: mct - updated : 12-06-2017

HGNC name	lipin 1
HGNC id	13345

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MGAR

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed 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