| Primary Identifier | MGI:102844 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 17868 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables myosin heavy chain binding activity. Acts upstream of or within several processes, including actin cytoskeleton organization; cardiac muscle contraction; and regulation of heart rate. Located in A band. Is expressed in several structures, including alimentary system; cardiovascular system; face; liver; and skeleton. Used to study hypertrophic cardiomyopathy 4. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1MM; familial hypertrophic cardiomyopathy; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 4. Orthologous to human MYBPC3 (myosin binding protein C3). PHENOTYPE: Homozygotes for null or truncated mutations exhibit cardiac abnormalities such as cardiac hypertrophy, dilated cardiomyopathy, abnormal cardiac muscle contractility and relaxation, disorganized myocardium, and cardiac fibrosis. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
