| Primary Identifier | MGI:2683854 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 228003 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including regulation of myoblast differentiation; regulation of myoblast proliferation; and skeletal muscle cell differentiation. Acts upstream of or within regulation of skeletal muscle cell differentiation. Located in M band; cytoskeleton; and sarcoplasmic reticulum membrane. Is expressed in aorta; heart; musculature; and somite. Used to study nemaline myopathy. Human ortholog(s) of this gene implicated in nemaline myopathy 9. Orthologous to human KLHL41 (kelch like family member 41). PHENOTYPE: The gene product is involved in stabilizing proteins involved in muscle function. Homozygous knockout affects the structure of muscle fibers and their sarcomeres, resulting in neonatal death. [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
