| Primary Identifier | MGI:1921742 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 74492 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables actin filament binding activity. Acts upstream of or within actin filament organization; regulation of the force of skeletal muscle contraction; and relaxation of skeletal muscle. Predicted to be located in Z disc. Used to study nemaline myopathy 6. Human ortholog(s) of this gene implicated in nemaline myopathy 6. Orthologous to human KBTBD13 (kelch repeat and BTB domain containing 13). PHENOTYPE: Homozygosity for a specific point mutation increases muscle weight and slows muscle relaxation kinetics. [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
