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FLASH GENE

Symbol

CAV3

contributors: mct/npt - updated : 17-03-2017

HGNC name	caveolin 3
HGNC id	1529

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LGMD1C , RMD2 , LQT9

related resource

Limb-Girdle Muscular dystrophy type 1C

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   with presenilin in astrocytes of Alzheimer disease and leading to alteration of APP processing constitutional     --over   in skeletal muscle fibers inducing a muscular dystrophy Duchenne-like constitutional     --over   in idiopathic hyper-CK-emia constitutional       loss of function palmitate-induced loss of CAV3 results in cardiac contractile dysfunction via a defect in calcium-induced calcium release

Susceptibility

to cardiac death

Variant & Polymorphism other	CAV3 V82I variant on cell viability may participate in determining the susceptibility to cardiac death

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	caveolin-3 null mice show abnormal neuromuscular junction activity that is consistent with altered CHRNA4 localization at the sarcolemma (Hezel 2010)
	caveolin-3 knockout (Cav-3KO) mice exhibited modestly increased myocardial ischemia/reperfusion injury (increased infarct size, apoptosis, and poorer cardiac function recovery