| 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 8.0.0) Predicted to enable ubiquitin-like ligase-substrate adaptor activity. 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
