| Primary Identifier | MGI:894698 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 20391 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Predicted to be involved in response to denervation involved in regulation of muscle adaptation and skeletal muscle tissue regeneration. Predicted to act upstream of or within membrane organization. Located in cell-cell junction; membrane raft; and sarcolemma. Part of sarcoglycan complex. Is expressed in several structures, including foregut; heart; limb interdigital region; musculature; and paraxial mesenchyme. Used to study autosomal recessive limb-girdle muscular dystrophy type 2D. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2D and muscular dystrophy. Orthologous to human SGCA (sarcoglycan alpha). PHENOTYPE: Homozygous mutation of this gene results in muscle abnormalities, with decreased skeletal muscle force and stiffness and muscular dystrophy. [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
