| Primary Identifier | MGI:1330824 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 13009 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actinin binding activity and telethonin binding activity. A structural constituent of muscle. Involved in several processes, including cardiac muscle contraction; cardiac myofibril assembly; and detection of muscle stretch. Acts upstream of or within several processes, including T-tubule organization; insulin receptor signaling pathway; and muscle cell cellular homeostasis. Located in Z disc. Is expressed in several structures, including genitourinary system; great vessel of heart; heart; limb segment; and skeletal musculature. Used to study congestive heart failure; dilated cardiomyopathy 1M; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 12. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; dilated cardiomyopathy 1M; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 12. Orthologous to human CSRP3 (cysteine and glycine rich protein 3). PHENOTYPE: Homozygotes for a targeted null mutation exhibit dilated cardiomyopathy characterized by disrupted cardiomyocyte organization that results in premature death, left ventricle dilation, hypertrophy, decreased contractility, and fibrosis. Some homozygotes die postnataly due to heart failure. [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
