| Primary Identifier | MGI:1919580 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 72330 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Involved in myotube differentiation and positive regulation of protein metabolic process. Acts upstream of or within negative regulation of proteasomal ubiquitin-dependent protein catabolic process and negative regulation of protein ubiquitination. Located in A band and I band. Part of Cul3-RING ubiquitin ligase complex. Is expressed in several structures, including diaphragm; genitourinary system; limb segment; musculature; and paraxial mesenchyme. Used to study nemaline myopathy 8. Human ortholog(s) of this gene implicated in nemaline myopathy 8. Orthologous to human KLHL40 (kelch like family member 40). PHENOTYPE: Homozygous disruption of this gene results in postnatal growth retardation, abnormal sarcomere morphology, skeletal muscle dysfunction, and complete postnatal lethality. Homozygotes for a null allele develop a nemaline-like myopathy. [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
