Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

MYBPC3

contributors: mlc/npt - updated : 09-11-2016

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)

CMH4 , CMHNE

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)