| 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 7.1.0) Predicted to enable calcium ion binding activity. 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
