hypertrophic cardiomyopathy 4

Summary
Synonym
  • CMH4
  • cardiomyopathy, familial hypertrophic, 4
Definition
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.
Super Class
familial hypertrophic cardiomyopathy
Disease Ontology
DOID:0110310
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4607 MYBPC3 myosin binding protein C3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q14896 Myosin-binding protein C, cardiac-type
Displaying 1 entry
UniProt ID Protein Name Source
O70468 Myosin-binding protein C, cardiac-type

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025