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FLASH GENE

Symbol

CAPN3

contributors: mct - updated : 11-04-2014

HGNC name	calpain 3, (p94)
HGNC id	1480

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LGMD2A

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   reduced expression associated with increased in body fat, obesity and insulin resistance

Susceptibility

to idiopathic eosinophilic myositis

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Capn3-deficient muscle in mice
	Rbfox1 downregulation and altered Capn3 splicing by Frg1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD)