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FLASH GENE

Symbol

PNPLA2

contributors: mct/npt/pgu - updated : 23-06-2015

HGNC name	patatin-like phospholipase domain containing 2
HGNC id	30802

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

NLSDM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   decreases intracellular triglyceride levels constitutional       gain of function by fasting in adipose tissue constitutional     --over   is sufficient to alter myocardial energy metabolism and improve cardiac function constitutional     --other   altered PNPLA2 and LIPE expression in skeletal muscle could promote diacylglycerol accumulation and disrupt insulin signaling and action constitutional     --over   LIPE or PNPLA2 overexpression resulted in increased triglyceride-specific hydrolase capacity, but only PNPLA2 overexpression increased whole cell lipolysis

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     pharmacological inhibition of lipases LIPE and PNPLA2) may represent a powerful strategy to avoid the devastating condition of cachexia in response to cancer or other chronic diseases

ANIMAL & CELL MODELS

	Atgl-/- mice were protected from tumor-associated skeletal muscle loss
	Mice deficient for adipose triglyceride lipase (ATGL-ko) exhibit defective lipolysis and accumulate TG in adipose tissue and muscle