| Primary Identifier | MGI:107570 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 12391 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables alpha-tubulin binding activity; connexin binding activity; and transmembrane transporter binding activity. Involved in detection of muscle stretch and negative regulation of membrane depolarization during cardiac muscle cell action potential. Acts upstream of or within several processes, including plasma membrane organization; regulation of signal transduction; and striated muscle cell differentiation. Located in T-tubule and caveola. Is expressed in several structures, including alimentary system; embryo mesenchyme; heart; musculature; and mystacial pad. Used to study rippling muscle disease 2. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple); isolated elevated serum creatine phosphokinase levels; and muscle tissue disease (multiple). Orthologous to human CAV3 (caveolin 3). PHENOTYPE: Homozygous targeted mutant animals display mild myopathic changes in muscle. [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
