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hypertrophic cardiomyopathy 6
Summary
- Synonym
-
- CMH6
- cardiomyopathy, familial hypertrophic 6
- Definition
- A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).
- Super Class
- familial hypertrophic cardiomyopathy
External Links
- Disease Ontology
- DOID:0110312
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UGJ0 | 5'-AMP-activated protein kinase subunit gamma-2 |
