| Primary Identifier | MGI:107437 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 12335 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium-dependent cysteine-type endopeptidase activity; metal ion binding activity; and molecular adaptor activity. A structural constituent of muscle. Involved in several processes, including G1 to G0 transition involved in cell differentiation; positive regulation of satellite cell activation involved in skeletal muscle regeneration; and regulation of DNA-templated transcription. Acts upstream of or within sarcomere organization. Located in cytosol and plasma membrane. Part of protein-containing complex. Is expressed in several structures, including brain; eye; heart; and musculature. Used to study autosomal recessive limb-girdle muscular dystrophy type 2A. Human ortholog(s) of this gene implicated in autosomal dominant limb-girdle muscular dystrophy; autosomal recessive limb-girdle muscular dystrophy type 2A; and muscular dystrophy. Orthologous to human CAPN3 (calpain 3). PHENOTYPE: Homozygous mutation of this gene results in muscle dystrophy. The psoas, soleus, and deltoid muscles are the most severely affected. The mutant allele appears to be preferentially transmitted resulting in ratio distortion. [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
