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FLASH GENE

Symbol

PNPLA3

contributors: mct/npt/pgu - updated : 10-06-2011

HGNC name	patatin-like phospholipase domain containing 3
HGNC id	18590

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   by fasting in adipose tissue constitutional     --over   in adipose tissue and in liver of obese patients constitutional germinal mutation     loss of function I148M substitution causes a loss of function in nonalcoholic fatty liver disease

Susceptibility

to nonalcoholic fatty liver disease to obesity to alcoholic liver disease and clinically evident alcoholic cirrhosis to lower HDL cholesterol and a tendency toward lower free fatty acid levels to hepatic steatosis in obese youths to non-alcoholic fatty liver disease

Variant & Polymorphism SNP , other	variant (rs738409) was strongly associated with hepatic fat content and nonalcoholic fatty liver disease
	rs738409 variant associated with obesity
	rs738409 in PNPLA3 is strongly associated with alcoholic liver disease and clinically evident alcoholic cirrhosis
	GG genotype had significantly lower HDL cholesterol and a tendency toward lower free fatty acid levels
	common variant of the PNPLA3 gene confers susceptibility to hepatic steatosis in obese youths without increasing the level of hepatic and peripheral insulin resistance
	PNPLA3 p.I148M variants represent genetic risk factors for non-alcoholic fatty liver disease (NAFLD)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed obesity     potential target for therapies to manage obesity and its associated disorders by controlling its expression or actions

ANIMAL & CELL MODELS