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FLASH GENE

Symbol

MYBPC3

contributors: mlc/npt - updated : 11-01-2023

HGNC name	myosin binding protein C, cardiac
HGNC id	7551

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CFMH4 , CMD1MM

related resource

FHC Mutation Database

Susceptibility

to chronic risk of heart failure to idiopathic dilated cardiomyopathy

Variant & Polymorphism insertion/deletion , other	25-bp deletion, a common MYBPC3 variant in South Asians, is associated with chronic risk of heart failure (Dhandapany 2009)
	mutated in idiopathic dilated cardiomyopathy (Moller 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	elevated oxidative stress in MYPBC3-mutated dilated cardiomyopathy (DCM) mice, which may exacerbate the development of heart failure
	mechanism leading to cardiac dilation in homozygous Mybpc3(-/-) mice is primarily myocyte hyperplasia, and mechanism leading to hypertrophic cardiomyopathy in heterozygous Mybpc3(+/-) individuals is myocyte hypertrophy (increased cell size)
	autophagy is impaired in Mybpc3-targeted knockin mice, and activation of autophagy ameliorated the cardiac disease phenotype in this mouse model