| Primary Identifier | MGI:1346523 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 24051 |
| 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 glucose import in response to insulin stimulus; muscle cell development; and response to glucose. Located in sarcolemma. Part of sarcoglycan complex. Is expressed in extraembryonic component; genitourinary system; musculature; and nervous system. Used to study autosomal recessive limb-girdle muscular dystrophy type 2E. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2E and muscular dystrophy. Orthologous to human SGCB (sarcoglycan beta). PHENOTYPE: Mice homozygous for a null allele exhibit muscular dystrophy and cardiomyopathy. [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
