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FLASH GENE

Symbol

PPARGC1A

contributors: mct/shn - updated : 21-06-2017

HGNC name	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
HGNC id	9237

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 tumoral     --low   in breast carcinoma with poor outcome constitutional     --low   in type 2 diabetes constitutional     --over   increased muscle expression of PPARGC1A paradoxically exacerbated fat-induced insulin resistance in skeletal muscle despite an increase in mitochondrial density and mitochondrial activity constitutional     --low   in muscle from HD subjects (

Susceptibility

insulin sensitivity and non-insulin dependent diabetes (type 2) in some populations obesity in middle aged women

Variant & Polymorphism SNP	G482S polymorphism and other in insulin sensitivity, diabetes, obesity and hypertension

Candidate gene
Marker
Therapy target	Overexpression of PGC-1 in CREB-deficient mice restored glucose homeostasis and rescued expression of gluconeogenic gene
	System Type Disorder Pubmed neurology neurodegenerative huntington chorea activator of PPARGC1A and TFAM may be a potential therapeutic strategy in Huntington disease neurology neurodegenerative   therapeutic agents activating PPARGC1A, PPARGC1B would be valuable for treating neurodegenerative diseases in which mitochondrial dysfunction and oxidative damage play an important pathogenic role cardiovascular aquired   beneficial role of PPARGC1A in therapies for cardiac diseases neurology neurodegenerative alzheimer over-expression of PGC-1α could completely rescue mitochondrial biogenesis AD-causing amyloid precursor protein M17 cells cardiovascular aquired heart failure elevating PGC-1alpha activity may have therapeutic potential in the treatment of heart failure neurology neurodegenerative huntington chorea PPARGC1A upstream of TFEB are important therapeutic targets in HD and potentially other neurodegenerative disorders caused by protein misfolding

ANIMAL & CELL MODELS

	PGC-1alpha null mice are lean and resistant to diet-induced obesity, constitutively activate gluconeogenic gene expression, and have elevated C/EBPbeta in liver
	transverse aortic constriction in mice lacking PGC-1alpha leads to accelerated cardiac dysfunction accompanied by signs of significant clinical heart failure
	mice lacking PGC-1alpha show abnormal diurnal rhythms of activity, body temperature and metabolic rate
	mice with combined deficiency of PGC-1alpha and PGC-1beta died shortly after birth with small hearts, bradycardia, intermittent heart block, and a markedly reduced cardiac output
	impaired function of PGC-1alpha plays a critical role in muscle dysfunction in Huntington's disease transgenic mice
	expression levels of PGC-1 alpha is significantly decreased in both Alzheimer's disease hippocampal tissues and AD-causing amyloid precursor protein mutant M17 cells
	knockdown of PGC-1 alpha could exacerbate impaired mitochondrial biogenesis and mitochondrial deficits in AD-causing amyloid precursor protein mutant M17 cells
	mice that lack cardiac PGC-1 alpha, a powerful regulator of angiogenesis, develop profound peripartum cardiomyopathy