| Primary Identifier | MGI:1923035 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 75785 |
| 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. Predicted to be involved in intermediate filament organization; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein autoubiquitination. Predicted to be located in adherens junction and desmosome. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. Is expressed in central nervous system; ganglia; and olfactory epithelium. Human ortholog(s) of this gene implicated in epidermolysis bullosa simplex and familial hypertrophic cardiomyopathy. Orthologous to human KLHL24 (kelch like family member 24). PHENOTYPE: Mice heterozygous for a single point mutation in the initiation codon exhibit decreased body size and weight, premature hair loss, and a reduction of keratin 14 protein levels in skin but no signs of skin fragility. [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
