| Primary Identifier | MGI:1346525 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 24052 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including calcium-mediated signaling; cardiac muscle cell contraction; and heart development. Located in sarcolemma and sarcoplasmic reticulum. Part of sarcoglycan complex. Is expressed in brain; dentate gyrus subgranular zone; mandible; and maxilla. Used to study autosomal recessive limb-girdle muscular dystrophy type 2F and dilated cardiomyopathy 1L. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2F; dilated cardiomyopathy 1L; and muscular dystrophy. Orthologous to human SGCD (sarcoglycan delta). PHENOTYPE: Mice homozygous for disruptions in this gene display cardiomyopathy 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
